Variant report

Variant	rs6949887
Chromosome Location	chr7:103837341-103837342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103156424..103158894-chr7:103835584..103837385,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10155973	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1019312	0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs10230637	0.82[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10232393	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10235201	0.83[YRI][hapmap];0.94[AFR][1000 genomes]
rs10241191	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs10242752	0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs10245622	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10248278	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249033	0.81[AFR][1000 genomes]
rs10250051	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10250235	0.96[AFR][1000 genomes]
rs10251976	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255806	0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs10260238	1.00[ASW][hapmap];0.87[CEU][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10262796	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs10262996	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs10266337	0.92[AFR][1000 genomes]
rs10267412	0.95[YRI][hapmap];0.96[AFR][1000 genomes]
rs10271923	0.95[YRI][hapmap];0.96[AFR][1000 genomes]
rs10275705	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10276243	0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs10277637	0.85[CEU][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10278320	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs10279675	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10279892	0.83[ASW][hapmap];0.87[CEU][hapmap];0.91[GIH][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10281636	0.87[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281709	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs10282300	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs10487184	0.97[LWK][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs10487192	0.90[YRI][hapmap];0.97[AFR][1000 genomes]
rs11489610	0.86[YRI][hapmap]
rs11972422	0.81[AFR][1000 genomes]
rs11979993	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs11980018	0.89[AFR][1000 genomes]
rs16873387	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs16873424	0.92[ASW][hapmap];0.87[CEU][hapmap];0.92[GIH][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159290	0.80[ASW][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs2385134	0.97[LWK][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs28645598	0.85[AFR][1000 genomes]
rs28686914	0.89[AFR][1000 genomes]
rs28820003	0.96[AFR][1000 genomes]
rs3779515	0.83[YRI][hapmap]
rs55749110	0.89[EUR][1000 genomes]
rs55901574	0.92[EUR][1000 genomes]
rs56390129	0.94[EUR][1000 genomes]
rs57278162	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59290626	0.97[EUR][1000 genomes]
rs59750244	0.81[AFR][1000 genomes]
rs6948021	0.87[AFR][1000 genomes]
rs6954109	0.95[YRI][hapmap];0.94[AFR][1000 genomes]
rs6971709	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6975642	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs73413894	0.92[AFR][1000 genomes]
rs73415704	0.96[AFR][1000 genomes]
rs73415708	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415709	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415717	0.97[AFR][1000 genomes]
rs73415735	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73415737	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73417718	0.80[AFR][1000 genomes]
rs7777446	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs7777906	0.86[YRI][hapmap]
rs9655777	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs9656090	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs9656093	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
2	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
3	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
4	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
5	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
6	chr7:103802200-103838600	Weak transcription	Psoas Muscle	Psoas
7	chr7:103809400-103838200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:103815400-103839200	Weak transcription	Colonic Mucosa	Colon
9	chr7:103815600-103838400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
11	chr7:103818600-103839600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:103819000-103838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:103821800-103839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:103822000-103845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:103822600-103839600	Strong transcription	K562	blood
16	chr7:103823000-103839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:103823000-103839200	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:103823800-103838600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:103823800-103839200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:103823800-103839200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:103823800-103839200	Weak transcription	Esophagus	oesophagus
22	chr7:103824200-103838400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:103824400-103838600	Weak transcription	Brain Angular Gyrus	brain
24	chr7:103825200-103839600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:103825600-103838400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:103826400-103844400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:103826800-103844600	Strong transcription	Adipose Nuclei	Adipose
28	chr7:103827400-103844600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:103828600-103837400	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:103829600-103839200	Weak transcription	Fetal Intestine Small	intestine
31	chr7:103830000-103837600	Weak transcription	Brain Germinal Matrix	brain
32	chr7:103830000-103838200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:103830000-103838400	Weak transcription	Lung	lung
34	chr7:103830000-103839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:103830000-103839200	Weak transcription	Pancreas	Pancrea
36	chr7:103830000-103839600	Weak transcription	NHLF	lung
37	chr7:103830200-103839000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:103830200-103839000	Weak transcription	Fetal Stomach	stomach
39	chr7:103830200-103839200	Strong transcription	Primary B cells from cord blood	blood
40	chr7:103830200-103839200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:103830200-103839200	Weak transcription	Gastric	stomach
42	chr7:103830400-103837800	Weak transcription	Osteobl	bone
43	chr7:103830400-103838000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:103830400-103838200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:103830400-103838600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:103830400-103838800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:103830400-103839000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:103830400-103839000	Weak transcription	HMEC	breast
49	chr7:103830400-103839200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:103830400-103839200	Weak transcription	Aorta	Aorta

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