Variant report

Variant	rs1976902
Chromosome Location	chr2:9787131-9787132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9786319..9790295-chr2:9795169..9796873,3	K562	blood:
2	chr2:9781325..9786143-chr2:9786474..9789625,5	K562	blood:
3	chr2:9613408..9615593-chr2:9784692..9787153,2	MCF-7	breast:
4	chr2:9772257..9774601-chr2:9785690..9787486,2	K562	blood:
5	chr2:9782654..9789334-chr2:9794560..9799702,7	MCF-7	breast:
6	chr2:9786319..9789288-chr2:9795169..9797264,3	K562	blood:
7	chr2:9767218..9769003-chr2:9785866..9787851,2	K562	blood:

Variant related genes	Relation type
ENSG00000134330	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10427360	0.82[ASN][1000 genomes]
rs10495569	0.83[ASN][1000 genomes]
rs1806668	0.86[ASN][1000 genomes]
rs2091210	0.85[CHB][hapmap]
rs3762535	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs4145375	0.85[CHB][hapmap]
rs4668626	0.88[CEU][hapmap];0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs4669402	0.85[CHB][hapmap]
rs4669403	0.84[ASN][1000 genomes]
rs6432026	0.80[ASN][1000 genomes]
rs6432027	0.82[ASN][1000 genomes]
rs6715748	0.85[CHB][hapmap]
rs73913150	0.84[ASN][1000 genomes]
rs73913152	0.84[ASN][1000 genomes]
rs884427	0.85[CHB][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv518363	chr2:9777229-9788315	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9778800-9788400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:9779600-9789400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:9780800-9788000	Weak transcription	Fetal Heart	heart
4	chr2:9783200-9788400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:9783200-9789200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:9784000-9792400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:9785400-9787200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:9785400-9787600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:9785800-9787600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:9785800-9789000	Weak transcription	Gastric	stomach
11	chr2:9786000-9788000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:9786400-9787200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr2:9786400-9787200	Enhancers	Ovary	ovary
14	chr2:9786600-9787200	Bivalent Enhancer	Fetal Stomach	stomach
15	chr2:9786600-9788400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:9786600-9788600	Weak transcription	Pancreas	Pancrea
17	chr2:9786600-9792400	Weak transcription	Spleen	Spleen
18	chr2:9786800-9787800	Weak transcription	Fetal Thymus	thymus
19	chr2:9786800-9792600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:9787000-9787200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:9787000-9787600	Enhancers	NHEK	skin
22	chr2:9787000-9788400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:9787000-9792400	Weak transcription	Brain Angular Gyrus	brain

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