Variant report

Variant	rs7690706
Chromosome Location	chr4:103796749-103796750
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103792090..103794720-chr4:103796684..103798750,2	K562	blood:
2	chr4:103788356..103790737-chr4:103795303..103797509,2	MCF-7	breast:
3	chr4:103795111..103797897-chr4:103800185..103803002,2	K562	blood:
4	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:
5	chr4:103790135..103792600-chr4:103794953..103797636,4	MCF-7	breast:
6	chr4:103746466..103749555-chr4:103796408..103800976,4	K562	blood:

Variant related genes	Relation type
ENSG00000145354	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000246560	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17033248	1.00[CEU][hapmap]
rs17033351	1.00[CEU][hapmap]
rs3974625	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6811212	1.00[CEU][hapmap]
rs6821545	1.00[CEU][hapmap]
rs6847207	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7668564	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7670621	1.00[CEU][hapmap]
rs7670680	1.00[CEU][hapmap]
rs7677366	1.00[CEU][hapmap]
rs7677599	1.00[CEU][hapmap]
rs7698383	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7699703	1.00[CEU][hapmap]
rs9307278	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	esv1802717	chr4:103765156-103870091	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv879683	chr4:103785051-103916717	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv1849799	chr4:103787351-103881772	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103790800-103799400	Weak transcription	Spleen	Spleen
2	chr4:103791000-103797600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:103791200-103797600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:103791200-103797600	Weak transcription	Aorta	Aorta
5	chr4:103791200-103798000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:103791200-103834800	Weak transcription	Ovary	ovary
7	chr4:103791400-103797000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:103791400-103797800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:103791400-103798000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:103791400-103798200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:103791400-103798400	Weak transcription	Fetal Brain Male	brain
12	chr4:103791400-103798800	Weak transcription	Adipose Nuclei	Adipose
13	chr4:103791400-103798800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:103791400-103800000	Weak transcription	Right Atrium	heart
15	chr4:103791400-103800200	Weak transcription	Colonic Mucosa	Colon
16	chr4:103791400-103800200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:103791400-103806400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:103791400-103806600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:103791400-103806800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:103791400-103818600	Weak transcription	HSMMtube	muscle
21	chr4:103791600-103797000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:103791600-103797000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:103791600-103797200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:103791600-103797400	Weak transcription	Fetal Heart	heart
25	chr4:103791600-103797800	Weak transcription	Brain Germinal Matrix	brain
26	chr4:103791600-103798000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:103791600-103798000	Weak transcription	Thymus	Thymus
28	chr4:103791600-103798200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:103791600-103798200	Weak transcription	NH-A	brain
30	chr4:103791600-103798400	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:103791600-103799200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:103791600-103799800	Weak transcription	Brain Substantia Nigra	brain
33	chr4:103791600-103802400	Weak transcription	Fetal Lung	lung
34	chr4:103791800-103797200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:103791800-103797800	Weak transcription	Fetal Intestine Large	intestine
36	chr4:103791800-103798000	Weak transcription	HMEC	breast
37	chr4:103792200-103797800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:103792200-103798400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:103792200-103798400	Weak transcription	NHLF	lung
40	chr4:103792200-103798800	Weak transcription	Liver	Liver
41	chr4:103792200-103811000	Weak transcription	Osteobl	bone
42	chr4:103792400-103797400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:103792400-103800000	Weak transcription	NHDF-Ad	bronchial
44	chr4:103792600-103799600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:103792800-103801200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:103792800-103811400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:103793000-103796800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:103793000-103796800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:103793000-103798000	Weak transcription	Hela-S3	cervix
50	chr4:103793000-103799400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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