Variant report

Variant	rs5996511
Chromosome Location	chr22:23624939-23624940
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr22:23623210-23625093	K562	blood:	n/a	n/a
2	POLR2A	chr22:23620853-23632783	K562	blood:	n/a	n/a
3	CTCF	chr22:23624880-23625030	GM12878	blood:	n/a	n/a
4	SP2	chr22:23623517-23625325	K562	blood:	n/a	n/a
5	TEAD4	chr22:23621762-23625090	K562	blood:	n/a	n/a
6	RCOR1	chr22:23623626-23625059	IMR90	lung:	n/a	n/a
7	POLR2A	chr22:23620818-23625944	K562	blood:	n/a	n/a
8	POLR2A	chr22:23624078-23625128	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr22:23622555-23625057	K562	blood:	n/a	n/a
10	POLR2A	chr22:23624635-23630423	K562	blood:	n/a	n/a
11	MAX	chr22:23624066-23624956	ECC-1	luminal epithelium:	n/a	chr22:23624536-23624545 chr22:23624535-23624544
12	SETDB1	chr22:23623120-23625448	K562	blood:	n/a	n/a
13	THAP1	chr22:23622320-23625164	K562	blood:	n/a	n/a
14	EP300	chr22:23623806-23624968	ECC-1	luminal epithelium:	n/a	chr22:23624535-23624544 chr22:23624804-23624820
15	CTCF	chr22:23623200-23624973	K562	blood:	n/a	chr22:23624174-23624195 chr22:23624181-23624194 chr22:23624179-23624197 chr22:23624180-23624196
16	GABPA	chr22:23622941-23625096	K562	blood:	n/a	chr22:23624511-23624520
17	RCOR1	chr22:23623835-23624939	K562	blood:	n/a	n/a
18	POLR2A	chr22:23621086-23630578	K562	blood:	n/a	n/a
19	HMGN3	chr22:23622723-23625496	K562	blood:	n/a	chr22:23624537-23624546 chr22:23624534-23624543
20	ETS1	chr22:23624078-23624943	GM12878	blood:	n/a	n/a
21	E2F6	chr22:23623438-23625582	Hela-S3	cervix:	n/a	n/a
22	JUND	chr22:23623920-23624965	SK-N-SH	brain:	n/a	chr22:23624535-23624544 chr22:23624537-23624544 chr22:23624534-23624545 chr22:23624534-23624546 chr22:23624536-23624544 chr22:23624532-23624543
23	TCF12	chr22:23623885-23625044	ECC-1	luminal epithelium:	n/a	chr22:23624590-23624600
24	ETS1	chr22:23622981-23625218	K562	blood:	n/a	chr22:23623595-23623608 chr22:23623970-23623977
25	ZNF263	chr22:23621092-23625040	K562	blood:	n/a	chr22:23623971-23623980 chr22:23624279-23624288
26	MAX	chr22:23623962-23624959	ECC-1	luminal epithelium:	n/a	chr22:23624536-23624545 chr22:23624535-23624544

No.	Distal block	Cell Line	Cell type
1	chr22:23515967..23516810-chr22:23623905..23625091,6	MCF-7	breast:
2	chr22:23515736..23517273-chr22:23623641..23625306,49	K562	blood:
3	chr22:23518801..23520125-chr22:23623736..23625336,5	K562	blood:
4	chr22:23520289..23523680-chr22:23623216..23625593,134	K562	blood:
5	chr22:23535749..23536292-chr22:23624579..23625352,2	K562	blood:
6	chr22:23301312..23301892-chr22:23623736..23624987,4	MCF-7	breast:
7	chr22:23520909..23526395-chr22:23622717..23628021,9	MCF-7	breast:
8	chr22:23519615..23526434-chr22:23614924..23625964,20	MCF-7	breast:

Variant related genes	Relation type
BCR	TF binding region
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17611266	1.00[ASN][1000 genomes]
rs5996507	1.00[ASN][1000 genomes]
rs5996513	1.00[CHB][hapmap]
rs5996514	1.00[AFR][1000 genomes]
rs6003584	1.00[ASN][1000 genomes]
rs6003586	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6003587	1.00[ASN][1000 genomes]
rs6003591	1.00[ASN][1000 genomes]
rs6003594	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6003595	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9608091	1.00[ASN][1000 genomes]
rs9612266	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9612267	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv588598	chr22:23530168-23638025	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
26	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
27	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
28	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
29	nsv1063476	chr22:23596683-23989388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
30	nsv544617	chr22:23596683-23989388	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
31	nsv1059951	chr22:23597270-23973060	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
32	nsv1060339	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
33	nsv544618	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
34	nsv1059384	chr22:23614429-23984195	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
35	nsv544619	chr22:23614429-23984195	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23595000-23647000	Strong transcription	Dnd41	blood
2	chr22:23595800-23649600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:23599400-23635000	Weak transcription	Small Intestine	intestine
4	chr22:23600200-23632000	Strong transcription	Fetal Intestine Small	intestine
5	chr22:23601800-23641000	Strong transcription	Primary T cells from cord blood	blood
6	chr22:23603400-23631600	Strong transcription	Fetal Intestine Large	intestine
7	chr22:23608800-23649400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:23612600-23647800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:23613000-23629600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:23613000-23640800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:23616600-23639000	Weak transcription	Fetal Kidney	kidney
12	chr22:23616800-23637200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr22:23618200-23628600	Weak transcription	Fetal Lung	lung
14	chr22:23619200-23625800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:23619400-23626600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:23620000-23625000	Genic enhancers	Gastric	stomach
17	chr22:23620000-23626400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:23620200-23625200	Enhancers	HMEC	breast
19	chr22:23620400-23626600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr22:23621000-23625000	Genic enhancers	Fetal Muscle Leg	muscle
21	chr22:23621000-23625400	Genic enhancers	NHEK	skin
22	chr22:23621600-23625600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr22:23621600-23626600	Weak transcription	Aorta	Aorta
24	chr22:23621800-23626200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:23622000-23625400	Genic enhancers	HUVEC	blood vessel
26	chr22:23622000-23627200	Weak transcription	Left Ventricle	heart
27	chr22:23622200-23625400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr22:23622200-23625800	Genic enhancers	Esophagus	oesophagus
29	chr22:23623000-23625000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr22:23623000-23625200	Enhancers	Brain Anterior Caudate	brain
31	chr22:23623000-23626400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:23623200-23625000	Enhancers	Stomach Mucosa	stomach
33	chr22:23623200-23625200	Enhancers	Rectal Smooth Muscle	rectum
34	chr22:23623200-23625600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr22:23623400-23625000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr22:23623400-23625000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:23623400-23625200	Enhancers	HSMMtube	muscle
38	chr22:23623400-23625400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr22:23623400-23625600	Weak transcription	Liver	Liver
40	chr22:23623400-23626200	Enhancers	Brain Hippocampus Middle	brain
41	chr22:23623400-23626400	Genic enhancers	Spleen	Spleen
42	chr22:23623400-23627200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:23623400-23631800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:23623600-23625000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr22:23623600-23625000	Enhancers	NH-A	brain
46	chr22:23623600-23625000	Enhancers	NHDF-Ad	bronchial
47	chr22:23623600-23625200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:23623600-23625200	Enhancers	HSMM	muscle
49	chr22:23623600-23625400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr22:23623600-23625600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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