Variant report

Variant	rs9430004
Chromosome Location	chr1:209775800-209775801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209775557..209776313-chr1:209865946..209866897,2	K562	blood:
2	chr1:209775290..209776004-chr1:209920694..209921561,3	K562	blood:
3	chr1:209775181..209776051-chr1:209920704..209921451,3	MCF-7	breast:
4	chr1:209775127..209775828-chr1:209800265..209801353,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2076224	0.82[CHB][hapmap]
rs2235452	0.81[LWK][hapmap];0.96[YRI][hapmap]
rs2356933	0.91[CHB][hapmap]
rs4556360	0.91[CHB][hapmap]
rs6540544	0.87[CHB][hapmap]
rs713074	0.91[CHB][hapmap]
rs7522730	0.91[CHB][hapmap]
rs7528476	0.91[CHB][hapmap]
rs7533785	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7541558	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs760833	0.87[CHB][hapmap]
rs926386	0.91[CHB][hapmap]
rs977441	0.91[CHB][hapmap]

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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209760600-209776400	Weak transcription	Fetal Lung	lung
2	chr1:209764200-209776600	Weak transcription	Ovary	ovary
3	chr1:209764200-209780400	Weak transcription	Fetal Brain Male	brain
4	chr1:209764600-209791200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:209765400-209776800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:209769600-209776400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:209769800-209781000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:209769800-209781200	Weak transcription	Spleen	Spleen
9	chr1:209771000-209780600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:209771000-209787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:209772200-209783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:209773000-209777200	Weak transcription	Fetal Heart	heart
13	chr1:209773600-209775800	Enhancers	Osteobl	bone
14	chr1:209773800-209776000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:209774200-209780400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:209774800-209780400	Weak transcription	HMEC	breast
17	chr1:209775200-209775800	Enhancers	NHEK	skin
18	chr1:209775200-209778400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:209775400-209775800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:209775400-209775800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:209775400-209775800	Enhancers	Brain Angular Gyrus	brain
22	chr1:209775600-209776000	Enhancers	Brain Germinal Matrix	brain
23	chr1:209775600-209791400	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:209775800-209776000	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:209775800-209776600	Weak transcription	Brain Angular Gyrus	brain
26	chr1:209775800-209780200	Weak transcription	NHEK	skin
27	chr1:209775800-209780400	Weak transcription	Osteobl	bone
28	chr1:209775800-209789800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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