Variant report

Variant	rs6830074
Chromosome Location	chr4:95482211-95482212
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95472261..95474248-chr4:95480587..95483073,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10000208	0.86[EUR][1000 genomes]
rs10025074	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726587	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11731606	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12498904	0.87[ASN][1000 genomes]
rs17336353	0.82[CHB][hapmap]
rs2452581	1.00[ASN][1000 genomes]
rs2452593	0.88[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.83[LWK][hapmap];0.85[TSI][hapmap];0.96[YRI][hapmap];0.89[ASN][1000 genomes]
rs2452594	0.82[CHB][hapmap];0.84[YRI][hapmap]
rs2510766	0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2510767	0.88[YRI][hapmap]
rs2510771	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2639795	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs28416638	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792664	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs3805271	0.89[ASN][1000 genomes]
rs3805272	0.89[ASN][1000 genomes]
rs3805274	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805283	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805286	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs3828518	0.82[CHB][hapmap]
rs6812098	1.00[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs6816687	0.82[CHB][hapmap]
rs699861	0.83[TSI][hapmap]
rs7656545	0.82[CHB][hapmap]
rs7679284	0.82[CHB][hapmap]
rs7683990	0.87[ASN][1000 genomes]
rs9307144	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:95458200-95483000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:95463000-95487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:95470000-95489200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:95470400-95482600	Weak transcription	HepG2	liver
8	chr4:95470400-95484800	Weak transcription	Fetal Intestine Large	intestine
9	chr4:95470600-95483600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:95470600-95489200	Weak transcription	Small Intestine	intestine
11	chr4:95479200-95484000	Enhancers	Fetal Heart	heart
12	chr4:95479400-95483400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:95479400-95484000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:95479400-95484000	Enhancers	NH-A	brain
15	chr4:95479400-95484600	Enhancers	Osteobl	bone
16	chr4:95479800-95491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:95479800-95496800	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:95480200-95483800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:95480200-95483800	Enhancers	HMEC	breast
20	chr4:95480200-95484000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:95480400-95482600	Enhancers	Adipose Nuclei	Adipose
22	chr4:95480400-95483400	Enhancers	NHLF	lung
23	chr4:95480600-95482400	Enhancers	Right Atrium	heart
24	chr4:95480600-95482600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:95480600-95483800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:95480600-95488000	Enhancers	Liver	Liver
27	chr4:95480800-95483000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:95481000-95483600	Enhancers	NHDF-Ad	bronchial
29	chr4:95481000-95484400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:95481200-95482800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:95481200-95494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:95481400-95482400	Weak transcription	K562	blood
33	chr4:95481400-95482600	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:95481400-95482800	Weak transcription	NHEK	skin
35	chr4:95481400-95483200	Weak transcription	Right Ventricle	heart
36	chr4:95481400-95484000	Enhancers	HSMMtube	muscle
37	chr4:95481400-95485200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr4:95481400-95496800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:95481400-95496800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:95481600-95482800	Weak transcription	Brain Anterior Caudate	brain
41	chr4:95481600-95483600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:95481600-95484000	Enhancers	Hela-S3	cervix
43	chr4:95481800-95482400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:95481800-95482600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr4:95481800-95483000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:95481800-95484600	Enhancers	HSMM	muscle
47	chr4:95482000-95482400	Weak transcription	A549	lung
48	chr4:95482000-95483000	Weak transcription	Gastric	stomach
49	chr4:95482000-95483000	Weak transcription	Ovary	ovary
50	chr4:95482000-95485200	Weak transcription	Aorta	Aorta

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