Variant report

Variant	rs7692549
Chromosome Location	chr4:8194659-8194660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8194111..8197514-chr4:8198468..8201950,4	K562	blood:
2	chr4:8193914..8196178-chr4:8208983..8211317,3	MCF-7	breast:
3	chr4:8178210..8179173-chr4:8194105..8195549,8	MCF-7	breast:
4	chr4:8018368..8020892-chr4:8193998..8196693,2	MCF-7	breast:
5	chr4:8178126..8179213-chr4:8194505..8195435,5	MCF-7	breast:
6	chr4:8189772..8192369-chr4:8193436..8194981,2	K562	blood:

Variant related genes	Relation type
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11937992	1.00[YRI][hapmap]
rs1678316	1.00[MEX][hapmap]
rs2619302	1.00[MEX][hapmap]
rs747905	1.00[AMR][1000 genomes]
rs7692968	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8187800-8195000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:8189600-8199200	Enhancers	HUVEC	blood vessel
4	chr4:8190200-8200400	Enhancers	Fetal Thymus	thymus
5	chr4:8190600-8194800	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:8191400-8199800	Weak transcription	Liver	Liver
7	chr4:8191800-8195400	Weak transcription	Fetal Lung	lung
8	chr4:8191800-8196000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:8191800-8200800	Enhancers	Placenta	Placenta
10	chr4:8192000-8194800	Enhancers	Fetal Muscle Trunk	muscle
11	chr4:8192000-8195000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:8192000-8195600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:8192000-8196400	Weak transcription	Right Atrium	heart
14	chr4:8192200-8200400	Weak transcription	Brain Anterior Caudate	brain
15	chr4:8192400-8197600	Weak transcription	Colonic Mucosa	Colon
16	chr4:8192400-8200600	Weak transcription	Brain Substantia Nigra	brain
17	chr4:8192800-8195400	Enhancers	Primary B cells from peripheral blood	blood
18	chr4:8193000-8200600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:8193200-8194800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:8193400-8194800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:8193400-8194800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:8193400-8194800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:8193400-8194800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr4:8193400-8195400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:8193600-8194800	Weak transcription	Right Ventricle	heart
26	chr4:8193600-8195200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:8193600-8195200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr4:8193600-8195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:8193600-8195600	Weak transcription	Esophagus	oesophagus
30	chr4:8193600-8196000	Weak transcription	HMEC	breast
31	chr4:8193600-8196000	Weak transcription	NHEK	skin
32	chr4:8193600-8196600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:8193600-8196600	Weak transcription	Left Ventricle	heart
34	chr4:8193600-8200400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr4:8193600-8200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr4:8194000-8195200	Enhancers	Lung	lung
37	chr4:8194000-8196600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:8194200-8195000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:8194200-8195200	Enhancers	Hela-S3	cervix
40	chr4:8194200-8195600	Enhancers	Primary B cells from cord blood	blood
41	chr4:8194200-8198000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:8194200-8199200	Enhancers	Thymus	Thymus
43	chr4:8194200-8201000	Weak transcription	Psoas Muscle	Psoas
44	chr4:8194400-8195000	Enhancers	Fetal Muscle Leg	muscle
45	chr4:8194600-8194800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:8194600-8194800	Flanking Active TSS	HepG2	liver
47	chr4:8194600-8194800	Enhancers	HSMM	muscle
48	chr4:8194600-8195000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:8194600-8195000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr4:8194600-8195000	Enhancers	Primary T helper cells fromperipheralblood	blood

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