Variant report

Variant	rs62439743
Chromosome Location	chr7:6783138-6783139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10215807	0.85[ASN][1000 genomes]
rs10244591	0.87[ASN][1000 genomes]
rs10263771	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10272921	0.91[ASN][1000 genomes]
rs12113879	0.82[ASN][1000 genomes]
rs12534591	0.86[ASN][1000 genomes]
rs12535850	0.88[EUR][1000 genomes]
rs12536067	0.85[ASN][1000 genomes]
rs12536107	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537487	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12540797	0.88[EUR][1000 genomes]
rs13229571	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13247186	0.83[ASN][1000 genomes]
rs2462654	0.82[ASN][1000 genomes]
rs28494902	0.84[ASN][1000 genomes]
rs28649084	0.82[ASN][1000 genomes]
rs34857592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34899283	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34947632	0.86[EUR][1000 genomes]
rs35121012	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35291651	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35644498	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35768299	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4724766	0.93[ASN][1000 genomes]
rs62439722	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62439727	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62439734	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62439737	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62439738	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6463579	0.80[ASN][1000 genomes]
rs6463580	0.80[ASN][1000 genomes]
rs6954172	0.80[ASN][1000 genomes]
rs7779296	0.91[ASN][1000 genomes]
rs7784521	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7789640	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7792579	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7792858	0.82[ASN][1000 genomes]
rs7796846	0.85[ASN][1000 genomes]
rs7804542	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv966754	chr7:6750289-6838266	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv887442	chr7:6753286-6820508	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv887443	chr7:6753286-6832265	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv887445	chr7:6758018-6843722	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv887447	chr7:6764583-6843722	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv887450	chr7:6779270-6919214	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv887451	chr7:6779270-6985071	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6770000-6783400	Weak transcription	Aorta	Aorta
2	chr7:6770400-6784800	Weak transcription	NHLF	lung
3	chr7:6770800-6786400	Weak transcription	Fetal Brain Male	brain
4	chr7:6771000-6786200	Weak transcription	HUVEC	blood vessel
5	chr7:6771000-6786400	Weak transcription	Primary B cells from cord blood	blood
6	chr7:6771200-6792400	Weak transcription	NHEK	skin
7	chr7:6771800-6783400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:6772400-6783200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:6772800-6787000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:6773000-6783200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:6773000-6786400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:6773400-6788200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:6773600-6784400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:6775800-6785000	Weak transcription	NH-A	brain
15	chr7:6776200-6783200	Weak transcription	Right Ventricle	heart
16	chr7:6777200-6784000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:6777200-6784800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:6777200-6785000	Weak transcription	HSMM	muscle
19	chr7:6777200-6786600	Weak transcription	HSMMtube	muscle
20	chr7:6777400-6784000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:6777400-6784600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:6777400-6784600	Weak transcription	HepG2	liver
23	chr7:6777400-6784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:6777400-6784800	Weak transcription	Fetal Lung	lung
25	chr7:6777400-6786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:6777400-6786400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:6777400-6786600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:6777400-6787000	Weak transcription	Fetal Kidney	kidney
29	chr7:6777400-6788200	Weak transcription	Brain Substantia Nigra	brain
30	chr7:6777400-6790600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:6777400-6791600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:6777400-6792000	Weak transcription	Colonic Mucosa	Colon
33	chr7:6777400-6792200	Weak transcription	Fetal Brain Female	brain
34	chr7:6777400-6793000	Weak transcription	Left Ventricle	heart
35	chr7:6777400-6793000	Weak transcription	Ovary	ovary
36	chr7:6777400-6793000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:6777400-6793800	Weak transcription	Brain Anterior Caudate	brain
38	chr7:6777600-6784600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:6777600-6786400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:6777600-6786400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:6777600-6786400	Weak transcription	NHDF-Ad	bronchial
42	chr7:6777600-6792200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:6777600-6792200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:6777600-6792200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:6777600-6793000	Weak transcription	Gastric	stomach
46	chr7:6777600-6793000	Weak transcription	Spleen	Spleen
47	chr7:6777600-6793800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:6777600-6793800	Weak transcription	Brain Germinal Matrix	brain
49	chr7:6777800-6783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:6777800-6784000	Weak transcription	Osteobl	bone

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