Variant report

Variant	rs17000794
Chromosome Location	chr4:76668777-76668778
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	chr4:76647682..76651316-chr4:76666005..76670369,4	K562	blood:
2	chr4:76648584..76651573-chr4:76668679..76671362,3	K562	blood:

Variant related genes	Relation type
ENSG00000138768	Chromatin interaction
ENSG00000138757	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10031352	0.94[ASN][1000 genomes]
rs10856853	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11097117	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556146	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11723767	0.92[JPT][hapmap]
rs11727895	0.94[ASN][1000 genomes]
rs11734358	0.92[ASN][1000 genomes]
rs11935073	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233780	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498415	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12505147	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12506101	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12508992	0.94[ASN][1000 genomes]
rs12511212	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16996019	0.85[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs17000786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17000864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186563	0.94[ASN][1000 genomes]
rs2089253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28573275	0.94[ASN][1000 genomes]
rs28680723	0.94[ASN][1000 genomes]
rs324686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324688	0.94[ASN][1000 genomes]
rs324690	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs324691	0.94[ASN][1000 genomes]
rs324693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324696	0.94[ASN][1000 genomes]
rs324697	0.94[ASN][1000 genomes]
rs324698	0.94[ASN][1000 genomes]
rs324700	0.94[ASN][1000 genomes]
rs324701	0.94[ASN][1000 genomes]
rs324703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324712	0.94[ASN][1000 genomes]
rs324713	0.94[ASN][1000 genomes]
rs324714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs324719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324722	0.94[ASN][1000 genomes]
rs324723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324726	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs324727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324730	0.94[ASN][1000 genomes]
rs324731	0.94[ASN][1000 genomes]
rs324733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324738	0.91[ASN][1000 genomes]
rs324740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs34855591	0.87[ASN][1000 genomes]
rs4262008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4610362	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs60225400	0.83[ASN][1000 genomes]
rs60945555	0.83[ASN][1000 genomes]
rs61603278	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531816	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6531934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827016	0.94[ASN][1000 genomes]
rs6856162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858061	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340822	0.85[CHB][hapmap]
rs7657198	0.94[ASN][1000 genomes]
rs7663617	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7680729	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7684778	0.82[ASN][1000 genomes]
rs7693127	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76673400	Weak transcription	Lung	lung
2	chr4:76650800-76675600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:76650800-76675800	Weak transcription	Esophagus	oesophagus
4	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:76652000-76673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:76652000-76675200	Weak transcription	Fetal Thymus	thymus
7	chr4:76652000-76675400	Weak transcription	Placenta	Placenta
8	chr4:76652000-76675600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:76652000-76675600	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:76652000-76675600	Weak transcription	Spleen	Spleen
11	chr4:76652000-76696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:76652200-76670800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:76652200-76675600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:76652400-76675200	Weak transcription	Fetal Kidney	kidney
15	chr4:76652400-76675600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:76652400-76675800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:76652400-76675800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
19	chr4:76652600-76670000	Weak transcription	K562	blood
20	chr4:76652600-76675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:76652600-76675600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:76652800-76670000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:76652800-76675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:76652800-76675600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr4:76652800-76675600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:76653000-76669400	Weak transcription	HUVEC	blood vessel
27	chr4:76653200-76670000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:76653200-76670600	Weak transcription	Primary T cells from cord blood	blood
29	chr4:76653200-76675200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:76653200-76675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:76653200-76675400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:76653200-76675600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:76653200-76675600	Weak transcription	Dnd41	blood
34	chr4:76653600-76670000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:76653800-76669800	Weak transcription	NHEK	skin
36	chr4:76653800-76670000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:76653800-76675400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:76654800-76674600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:76654800-76675200	Weak transcription	Pancreas	Pancrea
40	chr4:76654800-76675400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr4:76654800-76675800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:76655000-76670000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:76655000-76675000	Weak transcription	Small Intestine	intestine
44	chr4:76655200-76675600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:76655400-76670000	Weak transcription	NHDF-Ad	bronchial
46	chr4:76655400-76675200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:76655600-76675600	Weak transcription	HSMMtube	muscle
48	chr4:76655800-76669800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:76656200-76675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:76657600-76671400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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