Variant report

Variant	rs549535838
Chromosome Location	chr22:23522982-23522983
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	UBTF	chr22:23522092-23524093	K562	blood:	n/a	n/a
2	TBL1XR1	chr22:23520604-23527305	K562	blood:	n/a	n/a
3	TBL1XR1	chr22:23520619-23523842	K562	blood:	n/a	n/a
4	POLR2A	chr22:23522510-23523418	MCF10A-Er-Src	breast:	n/a	n/a
5	HDAC2	chr22:23520523-23526205	K562	blood:	n/a	chr22:23521032-23521051
6	POLR2A	chr22:23520633-23526356	K562	blood:	n/a	n/a
7	YY1	chr22:23522857-23524455	K562	blood:	n/a	n/a
8	EP300	chr22:23520596-23523878	K562	blood:	n/a	chr22:23522854-23522870 chr22:23521047-23521060 chr22:23522997-23523010 chr22:23521637-23521650
9	MYC	chr22:23521693-23523755	K562	blood:	n/a	chr22:23522597-23522607
10	POLR2A	chr22:23522601-23522997	GM12878	blood:	n/a	n/a
11	UBTF	chr22:23520613-23526470	K562	blood:	n/a	n/a
12	ELK1	chr22:23521501-23523446	K562	blood:	n/a	n/a
13	RAD21	chr22:23522091-23523875	K562	blood:	n/a	chr22:23522585-23522598 chr22:23522583-23522597 chr22:23522587-23522597
14	POLR2A	chr22:23521095-23526502	K562	blood:	n/a	n/a
15	POLR2A	chr22:23521777-23523434	K562	blood:	n/a	n/a
16	NRF1	chr22:23521977-23523500	SK-N-SH	brain:	n/a	chr22:23522703-23522712 chr22:23523203-23523214
17	TAF1	chr22:23522556-23523051	HepG2	liver:	n/a	n/a
18	POLR2A	chr22:23522585-23523287	MCF-7	breast:	n/a	n/a
19	TAF1	chr22:23521869-23523821	K562	blood:	n/a	n/a
20	TEAD4	chr22:23520448-23527326	K562	blood:	n/a	n/a
21	FOXP2	chr22:23522568-23523020	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr22:23522537-23523509	GM18505	blood:	n/a	n/a
23	POLR2A	chr22:23522510-23523007	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr22:23521572-23527572	K562	blood:	n/a	n/a
25	IRF1	chr22:23522212-23523422	K562	blood:	n/a	n/a
26	POLR2A	chr22:23522584-23523293	Hela-S3	cervix:	n/a	n/a
27	TBP	chr22:23520623-23526179	K562	blood:	n/a	n/a
28	MAX	chr22:23521486-23525908	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
29	POLR2A	chr22:23522602-23523368	MCF-7	breast:	n/a	n/a
30	ZBTB7A	chr22:23521531-23525286	K562	blood:	n/a	chr22:23522591-23522599 chr22:23522590-23522598
31	E2F6	chr22:23522506-23523982	K562	blood:	n/a	chr22:23522861-23522870
32	POLR2A	chr22:23522521-23523288	Raji	blood:	n/a	n/a
33	MYC	chr22:23522851-23523165	MCF-7	breast:	n/a	n/a
34	POLR2A	chr22:23522474-23523333	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr22:23522563-23523378	MCF-7	breast:	n/a	n/a
36	MAX	chr22:23521593-23524918	HepG2	liver:	n/a	chr22:23524440-23524449 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
37	POLR2A	chr22:23521884-23526135	K562	blood:	n/a	n/a
38	TCF3	chr22:23522593-23523035	GM12878	blood:	n/a	n/a
39	IRF1	chr22:23522225-23523422	K562	blood:	n/a	n/a
40	POLR2A	chr22:23522375-23523541	HUVEC	blood vessel:	n/a	n/a
41	ETS1	chr22:23521737-23525029	K562	blood:	n/a	chr22:23522665-23522676
42	ZC3H11A	chr22:23520594-23526970	K562	blood:	n/a	n/a
43	REST	chr22:23522291-23523638	H1-neurons	neurons:	n/a	n/a
44	NRF1	chr22:23522907-23523314	K562	blood:	n/a	chr22:23523203-23523214
45	ELF1	chr22:23522499-23524556	K562	blood:	n/a	n/a
46	POLR2A	chr22:23522567-23523261	A549	lung:	n/a	n/a
47	MAX	chr22:23520537-23526174	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
48	MAX	chr22:23521643-23523309	HepG2	liver:	n/a	chr22:23522597-23522607
49	GTF2F1	chr22:23520624-23526023	K562	blood:	n/a	n/a
50	MYC	chr22:23520609-23526146	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448

No.	Distal block	Cell Line	Cell type
1	chr22:23522976..23523833-chr22:23602295..23603210,2	K562	blood:
2	chr22:23520289..23523680-chr22:23623216..23625593,134	K562	blood:
3	chr13:92000505..92003025-chr22:23522118..23523811,2	K562	blood:
4	chr22:23520909..23526395-chr22:23622717..23628021,9	MCF-7	breast:
5	chr22:23522684..23525634-chr22:23628553..23630815,2	MCF-7	breast:
6	chr17:56736459..56737112-chr22:23522420..23523405,2	MCF-7	breast:
7	chr22:23522764..23523306-chr9:133738661..133739192,2	K562	blood:
8	chr13:91999405..92003025-chr22:23522118..23524074,3	K562	blood:
9	chr22:23519615..23526434-chr22:23614924..23625964,20	MCF-7	breast:
10	chr22:23522895..23526255-chr22:23576324..23579715,3	MCF-7	breast:
11	chr22:23521185..23525273-chr22:23592606..23595379,3	MCF-7	breast:
12	chr22:23521575..23523250-chr22:23605169..23607302,2	MCF-7	breast:
13	chr22:23522566..23524379-chr6:26053067..26054822,2	K562	blood:
14	chr1:192777739..192778276-chr22:23522638..23523330,2	HCT-116	colon:
15	chr22:23155103..23157714-chr22:23521587..23523946,2	K562	blood:
16	chr22:23522033..23525900-chr22:23589634..23593895,5	MCF-7	breast:
17	chr22:23522919..23527024-chr9:133630421..133633989,3	K562	blood:
18	chr22:22899777..22902567-chr22:23521741..23524198,2	K562	blood:
19	chr12:120728333..120732236-chr22:23519442..23524202,7	K562	blood:

Variant related genes	Relation type
BCRP8	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000226477	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000116741	Chromatin interaction
ENSG00000220891	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000230701	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv1058604	chr22:23497533-23545751	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	esv3365113	chr22:23521252-23524950	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	esv3373787	chr22:23521577-23524125	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
27	esv3375851	chr22:23521902-23524450	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23522000-23523600	Active TSS	Aorta	Aorta
2	chr22:23522000-23523800	Active TSS	A549	lung
3	chr22:23522000-23525000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:23522000-23525800	Transcr. at gene 5' and 3'	Right Atrium	heart
5	chr22:23522200-23523200	Weak transcription	Fetal Kidney	kidney
6	chr22:23522200-23523200	Active TSS	NHLF	lung
7	chr22:23522200-23523600	Active TSS	Gastric	stomach
8	chr22:23522200-23523600	Active TSS	Ovary	ovary
9	chr22:23522200-23523800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:23522200-23523800	Active TSS	Brain Anterior Caudate	brain
11	chr22:23522200-23523800	Active TSS	HepG2	liver
12	chr22:23522400-23523000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:23522400-23523200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:23522400-23523200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:23522400-23523200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr22:23522400-23523200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr22:23522400-23523200	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr22:23522400-23523400	Active TSS	Right Ventricle	heart
19	chr22:23522400-23523600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr22:23522400-23523600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:23522400-23523600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:23522400-23523600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr22:23522400-23523600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:23522400-23523600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr22:23522400-23523600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:23522400-23523600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:23522400-23523600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:23522400-23523600	Active TSS	Duodenum Mucosa	Duodenum
29	chr22:23522400-23523600	Active TSS	Esophagus	oesophagus
30	chr22:23522400-23523600	Active TSS	Fetal Brain Female	brain
31	chr22:23522400-23523600	Active TSS	Lung	lung
32	chr22:23522400-23523600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr22:23522400-23523600	Active TSS	Rectal Smooth Muscle	rectum
34	chr22:23522400-23523600	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr22:23522400-23523600	Active TSS	Stomach Smooth Muscle	stomach
36	chr22:23522400-23523600	Active TSS	Spleen	Spleen
37	chr22:23522400-23523800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr22:23522400-23523800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr22:23522400-23523800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:23522400-23523800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:23522400-23523800	Active TSS	Brain Hippocampus Middle	brain
42	chr22:23522400-23523800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:23522400-23523800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr22:23522400-23523800	Active TSS	Left Ventricle	heart
45	chr22:23522400-23523800	Active TSS	Placenta Amnion	Placenta Amnion
46	chr22:23522400-23523800	Active TSS	Psoas Muscle	Psoas
47	chr22:23522400-23524000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr22:23522400-23524000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr22:23522400-23524000	Active TSS	Brain Cingulate Gyrus	brain
50	chr22:23522400-23524000	Active TSS	Hela-S3	cervix

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