Variant report

Variant	rs7698110
Chromosome Location	chr4:166247317-166247318
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:166246475-166247352	GM12892	blood:	n/a	n/a
2	ZC3H11A	chr4:166246811-166247661	K562	blood:	n/a	n/a
3	POLR2A	chr4:166246698-166247590	HUVEC	blood vessel:	n/a	n/a
4	ATF3	chr4:166246887-166247321	K562	blood:	n/a	n/a
5	SMC3	chr4:166247021-166247396	Hela-S3	cervix:	n/a	n/a
6	ARID3A	chr4:166247006-166247696	K562	blood:	n/a	n/a
7	BHLHE40	chr4:166247011-166247381	K562	blood:	n/a	n/a
8	MAFK	chr4:166246902-166247382	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOSL2	chr4:166246906-166247413	MCF-7	breast:	n/a	n/a
10	POLR2A	chr4:166246756-166254107	MCF10A-Er-Src	breast:	n/a	n/a
11	TEAD4	chr4:166246887-166247354	K562	blood:	n/a	n/a
12	POLR2A	chr4:166246775-166247404	U87	brain:	n/a	n/a
13	TBL1XR1	chr4:166246925-166247337	K562	blood:	n/a	n/a
14	SETDB1	chr4:166246744-166247328	U2OS	brain:	n/a	n/a
15	EP300	chr4:166247163-166247350	GM12878	blood:	n/a	n/a
16	CEBPB	chr4:166246917-166247683	K562	blood:	n/a	n/a
17	POLR2A	chr4:166246495-166247678	H1-hESC	embryonic stem cell:	n/a	n/a
18	STAT3	chr4:166247091-166247350	MCF10A-Er-Src	breast:	n/a	n/a
19	CEBPB	chr4:166246905-166247594	IMR90	lung:	n/a	n/a
20	MAZ	chr4:166246750-166247501	K562	blood:	n/a	n/a
21	NFATC1	chr4:166246773-166247426	GM12878	blood:	n/a	n/a
22	MAFF	chr4:166246976-166247385	HepG2	liver:	n/a	chr4:166247135-166247153 chr4:166247160-166247178
23	CBX3	chr4:166246634-166247386	K562	blood:	n/a	n/a
24	POLR2A	chr4:166246687-166247349	H1-hESC	embryonic stem cell:	n/a	n/a
25	EP300	chr4:166246878-166247520	HepG2	liver:	n/a	n/a
26	POLR2A	chr4:166246470-166247660	HCT-116	colon:	n/a	n/a
27	FOXA1	chr4:166247012-166247489	HepG2	liver:	n/a	n/a
28	POLR2A	chr4:166247098-166247559	K562	blood:	n/a	n/a
29	SP1	chr4:166246702-166247532	HCT-116	colon:	n/a	n/a
30	MYBL2	chr4:166246945-166247458	HepG2	liver:	n/a	n/a
31	CEBPB	chr4:166247094-166247466	HepG2	liver:	n/a	n/a
32	STAT3	chr4:166247015-166247425	MCF10A-Er-Src	breast:	n/a	n/a
33	GATA1	chr4:166246030-166247702	PBDE	blood:	n/a	n/a
34	JUN	chr4:166246929-166247929	K562	blood:	n/a	n/a
35	FOXA1	chr4:166247061-166247467	HepG2	liver:	n/a	n/a
36	ZNF143	chr4:166246840-166247498	K562	blood:	n/a	n/a
37	MAFF	chr4:166246801-166247712	K562	blood:	n/a	chr4:166247135-166247153 chr4:166247160-166247178
38	HMGN3	chr4:166246904-166247582	K562	blood:	n/a	n/a
39	JUND	chr4:166246989-166247387	Hela-S3	cervix:	n/a	chr4:166247135-166247146 chr4:166247160-166247171
40	FOXA2	chr4:166247043-166247417	HepG2	liver:	n/a	n/a
41	JUN	chr4:166245200-166249708	K562	blood:	n/a	chr4:166248765-166248774 chr4:166248995-166249004
42	HCFC1	chr4:166247011-166247582	K562	blood:	n/a	n/a
43	EP300	chr4:166247066-166247477	HepG2	liver:	n/a	n/a
44	MAFK	chr4:166246927-166247399	Hela-S3	cervix:	n/a	n/a
45	TEAD4	chr4:166246875-166247407	ECC-1	luminal epithelium:	n/a	n/a
46	SREBP2	chr4:166247205-166250483	GM12878	blood:	n/a	n/a
47	CEBPB	chr4:166246989-166247412	Hela-S3	cervix:	n/a	n/a
48	ZMIZ1	chr4:166247045-166247634	K562	blood:	n/a	n/a
49	POLR2A	chr4:166247085-166250539	HepG2	liver:	n/a	n/a
50	STAT3	chr4:166247093-166247477	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:166033254..166035775-chr4:166247057..166248909,2	MCF-7	breast:
2	chr4:166127386..166130072-chr4:166247171..166250406,6	MCF-7	breast:
3	chr4:166128531..166130929-chr4:166246215..166249595,5	MCF-7	breast:

No data

Variant related genes	Relation type
MSMO1	TF binding region
ENSG00000170088	Chromatin interaction
ENSG00000109466	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10001184	0.91[AFR][1000 genomes]
rs9998426	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166220000-166247400	Weak transcription	Fetal Stomach	stomach
2	chr4:166220000-166247800	Weak transcription	Right Ventricle	heart
3	chr4:166223400-166247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:166223400-166247600	Weak transcription	Thymus	Thymus
5	chr4:166223400-166247800	Weak transcription	Aorta	Aorta
6	chr4:166223400-166248000	Weak transcription	Gastric	stomach
7	chr4:166223600-166247400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:166223600-166247400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:166223600-166247600	Weak transcription	Fetal Lung	lung
10	chr4:166223800-166247600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:166224200-166247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:166224200-166247600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:166224400-166247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:166230800-166247400	Weak transcription	Brain Germinal Matrix	brain
15	chr4:166230800-166247400	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:166233000-166248000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:166233400-166247600	Weak transcription	Adipose Nuclei	Adipose
18	chr4:166233400-166247800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:166233400-166248000	Weak transcription	Left Ventricle	heart
20	chr4:166234000-166247600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:166234400-166247400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:166236200-166247400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:166240800-166247400	Weak transcription	Fetal Brain Male	brain
24	chr4:166241000-166247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:166241800-166247600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:166242200-166247400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:166244600-166247400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:166245400-166247600	Enhancers	HMEC	breast
29	chr4:166245800-166247600	Enhancers	Fetal Intestine Large	intestine
30	chr4:166246400-166247400	Enhancers	Duodenum Mucosa	Duodenum
31	chr4:166246400-166247600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:166246600-166247400	Enhancers	Dnd41	blood
33	chr4:166246600-166247400	Enhancers	HSMM	muscle
34	chr4:166246600-166247400	Enhancers	HSMMtube	muscle
35	chr4:166246600-166247400	Enhancers	NHLF	lung
36	chr4:166246600-166247600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr4:166246600-166247600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:166246600-166247600	Enhancers	Psoas Muscle	Psoas
39	chr4:166246600-166247800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:166246600-166247800	Enhancers	Esophagus	oesophagus
41	chr4:166246600-166248000	Enhancers	Placenta	Placenta
42	chr4:166246600-166248000	Enhancers	Pancreas	Pancrea
43	chr4:166246800-166247400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr4:166246800-166247400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:166246800-166247400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr4:166246800-166247400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:166246800-166247400	Enhancers	Brain Cingulate Gyrus	brain
48	chr4:166246800-166247400	Enhancers	Brain Hippocampus Middle	brain
49	chr4:166246800-166247400	Enhancers	NHDF-Ad	bronchial
50	chr4:166246800-166247600	Enhancers	Primary T cells fromperipheralblood	blood

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