Variant report

Variant	rs7664692
Chromosome Location	chr4:22502943-22502944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22501387..22504925-chr4:22515596..22518632,4	MCF-7	breast:
2	chr4:22500720..22505653-chr4:22515837..22519334,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152990	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10516410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1564133	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16872695	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16872700	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16872711	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16872734	1.00[CHB][hapmap]
rs16872745	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4271996	0.82[ASN][1000 genomes]
rs55747913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55785050	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58471362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58836068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61793374	0.82[ASN][1000 genomes]
rs61793403	0.82[ASN][1000 genomes]
rs61793407	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61793409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61793414	1.00[ASN][1000 genomes]
rs61793415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793421	0.82[ASN][1000 genomes]
rs6821091	0.82[ASN][1000 genomes]
rs717674	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7679108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684229	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7691588	1.00[ASN][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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
2	chr4:22488400-22503000	Weak transcription	Small Intestine	intestine
3	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:22488800-22503600	Weak transcription	NHLF	lung
5	chr4:22489600-22503800	Weak transcription	HSMM	muscle
6	chr4:22490200-22503600	Weak transcription	Right Ventricle	heart
7	chr4:22490200-22508600	Weak transcription	Right Atrium	heart
8	chr4:22492800-22506000	Weak transcription	Lung	lung
9	chr4:22493200-22504000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:22493800-22506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:22497000-22515600	Weak transcription	Fetal Stomach	stomach
12	chr4:22497200-22506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:22498400-22503400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:22500000-22508200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:22500400-22503400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:22500400-22504200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:22500400-22504400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:22500400-22510600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:22500400-22510600	Enhancers	HMEC	breast
20	chr4:22500600-22503000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:22500600-22503000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:22500600-22503200	Enhancers	Colon Smooth Muscle	Colon
23	chr4:22500600-22504200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:22500600-22504400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:22500600-22504600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:22500600-22505600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr4:22500600-22507800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:22500600-22510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:22500800-22506600	Enhancers	Fetal Heart	heart
30	chr4:22500800-22507600	Weak transcription	Ovary	ovary
31	chr4:22501000-22503200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:22501000-22503200	Enhancers	Rectal Smooth Muscle	rectum
33	chr4:22501000-22503600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:22501000-22504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:22501000-22505600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:22501000-22506000	Weak transcription	Brain Germinal Matrix	brain
37	chr4:22501200-22503800	Enhancers	Fetal Intestine Large	intestine
38	chr4:22501200-22505000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:22501200-22505200	Weak transcription	Brain Anterior Caudate	brain
40	chr4:22501400-22503800	Enhancers	Fetal Intestine Small	intestine
41	chr4:22501400-22504000	Enhancers	HepG2	liver
42	chr4:22501400-22504200	Enhancers	Liver	Liver
43	chr4:22501400-22505400	Enhancers	Hela-S3	cervix
44	chr4:22501800-22503000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:22501800-22503000	Enhancers	Stomach Mucosa	stomach
46	chr4:22501800-22506800	Enhancers	Pancreas	Pancrea
47	chr4:22501800-22508000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:22502000-22503000	Enhancers	Left Ventricle	heart
49	chr4:22502000-22504000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr4:22502000-22505000	Enhancers	NH-A	brain

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