Variant report

Variant	rs9620237
Chromosome Location	chr22:23645493-23645494
allele	C/T
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	POLR2A	chr22:23645343-23645514	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:23645389-23645726	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr22:23645422-23645696	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
BCR	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12157412	1.00[AMR][1000 genomes]
rs12157536	1.00[AMR][1000 genomes]
rs12158986	1.00[AMR][1000 genomes]
rs12159793	1.00[AMR][1000 genomes]
rs12160027	1.00[AMR][1000 genomes]
rs12160099	1.00[AMR][1000 genomes]
rs2330366	1.00[AMR][1000 genomes]
rs5996469	1.00[AMR][1000 genomes]
rs5996472	1.00[AMR][1000 genomes]
rs5996477	1.00[AMR][1000 genomes]
rs5996479	1.00[AMR][1000 genomes]
rs5996480	1.00[AMR][1000 genomes]
rs5996481	1.00[AMR][1000 genomes]
rs5996482	1.00[AMR][1000 genomes]
rs5996484	1.00[AMR][1000 genomes]
rs6003521	1.00[AMR][1000 genomes]
rs6003522	1.00[AMR][1000 genomes]
rs6003523	1.00[AMR][1000 genomes]
rs6003524	1.00[AMR][1000 genomes]
rs6003526	1.00[AMR][1000 genomes]
rs6003528	1.00[AMR][1000 genomes]
rs6003530	1.00[AMR][1000 genomes]
rs6003537	1.00[AMR][1000 genomes]
rs6003538	1.00[AMR][1000 genomes]
rs6003539	1.00[AMR][1000 genomes]
rs6003540	1.00[AMR][1000 genomes]
rs6003541	1.00[AMR][1000 genomes]
rs6003542	1.00[AMR][1000 genomes]
rs6003543	1.00[AMR][1000 genomes]
rs6003545	1.00[AMR][1000 genomes]
rs6003546	1.00[AMR][1000 genomes]
rs6003548	1.00[AMR][1000 genomes]
rs6003549	1.00[AMR][1000 genomes]
rs6003628	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	nsv588601	chr22:23632665-23979219	Bivalent Enhancer Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 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	chr22:23608800-23649400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:23612600-23647800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr22:23624000-23647000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:23624000-23649200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:23624200-23647000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:23624200-23647200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:23624400-23649400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:23624400-23649400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:23624400-23649400	Strong transcription	Thymus	Thymus
12	chr22:23624400-23649600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:23624400-23649600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:23624600-23646200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr22:23624600-23647000	Strong transcription	Fetal Thymus	thymus
16	chr22:23624600-23647800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr22:23624600-23648200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr22:23624600-23649000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:23624600-23649400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr22:23624800-23649400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr22:23625000-23647600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr22:23625400-23645800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr22:23625600-23646000	Strong transcription	Fetal Stomach	stomach
24	chr22:23625600-23649200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:23625800-23647400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:23625800-23649400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:23626200-23645800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:23627800-23645800	Strong transcription	Pancreas	Pancrea
29	chr22:23628600-23647400	Weak transcription	HSMM	muscle
30	chr22:23631000-23645800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:23632000-23647400	Weak transcription	Fetal Brain Male	brain
32	chr22:23632800-23645600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr22:23632800-23645800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr22:23632800-23646800	Weak transcription	Right Atrium	heart
35	chr22:23632800-23647200	Weak transcription	K562	blood
36	chr22:23632800-23647400	Weak transcription	NHDF-Ad	bronchial
37	chr22:23632800-23657600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr22:23633000-23649400	Strong transcription	Fetal Intestine Small	intestine
39	chr22:23633200-23645800	Strong transcription	Fetal Intestine Large	intestine
40	chr22:23633200-23645800	Strong transcription	Fetal Muscle Leg	muscle
41	chr22:23633200-23647400	Weak transcription	Stomach Mucosa	stomach
42	chr22:23633400-23647000	Strong transcription	Liver	Liver
43	chr22:23634400-23645600	Strong transcription	Esophagus	oesophagus
44	chr22:23635000-23645600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr22:23635200-23657600	Weak transcription	A549	lung
46	chr22:23635600-23649400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:23635600-23655200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr22:23635800-23657800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr22:23636000-23657400	Weak transcription	Small Intestine	intestine
50	chr22:23636600-23657600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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