Variant report

Variant	rs6987323
Chromosome Location	chr8:42597232-42597233
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10101564	0.81[EUR][1000 genomes]
rs10101973	0.84[EUR][1000 genomes]
rs10104038	0.81[EUR][1000 genomes]
rs10112455	0.84[EUR][1000 genomes]
rs13439675	0.84[EUR][1000 genomes]
rs1451241	0.84[EUR][1000 genomes]
rs1451242	0.81[EUR][1000 genomes]
rs16891521	0.81[EUR][1000 genomes]
rs16891530	0.81[EUR][1000 genomes]
rs28413944	0.81[EUR][1000 genomes]
rs28528998	0.81[EUR][1000 genomes]
rs28616109	0.81[EUR][1000 genomes]
rs28621985	0.81[EUR][1000 genomes]
rs28680472	0.81[EUR][1000 genomes]
rs28809511	0.84[EUR][1000 genomes]
rs28848209	0.81[EUR][1000 genomes]
rs28849085	0.81[EUR][1000 genomes]
rs28850974	0.84[EUR][1000 genomes]
rs4952	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4953	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55817013	0.90[EUR][1000 genomes]
rs57435730	0.90[EUR][1000 genomes]
rs57499403	0.90[EUR][1000 genomes]
rs57521649	0.90[EUR][1000 genomes]
rs58205452	0.90[EUR][1000 genomes]
rs58279443	0.90[EUR][1000 genomes]
rs59521406	0.90[EUR][1000 genomes]
rs59569717	0.90[EUR][1000 genomes]
rs59689170	0.81[EUR][1000 genomes]
rs60926557	0.90[EUR][1000 genomes]
rs61601101	0.84[EUR][1000 genomes]
rs62515862	0.90[EUR][1000 genomes]
rs62515865	0.90[EUR][1000 genomes]
rs62515867	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62515871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515872	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62515873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62516708	0.81[EUR][1000 genomes]
rs62516711	0.81[EUR][1000 genomes]
rs62516713	0.84[EUR][1000 genomes]
rs62516715	0.84[EUR][1000 genomes]
rs62516718	0.84[EUR][1000 genomes]
rs62516719	0.84[EUR][1000 genomes]
rs62516738	0.84[EUR][1000 genomes]
rs62516739	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62516740	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62516741	0.84[EUR][1000 genomes]
rs62516742	0.84[EUR][1000 genomes]
rs62516743	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62516744	0.84[EUR][1000 genomes]
rs62516745	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62516746	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62516747	0.84[EUR][1000 genomes]
rs62516748	0.84[EUR][1000 genomes]
rs62516749	0.84[EUR][1000 genomes]
rs62516750	0.84[EUR][1000 genomes]
rs62516751	0.84[EUR][1000 genomes]
rs62516752	0.84[EUR][1000 genomes]
rs62516753	0.84[EUR][1000 genomes]
rs62516754	0.84[EUR][1000 genomes]
rs62516755	0.84[EUR][1000 genomes]
rs62516756	0.84[EUR][1000 genomes]
rs62516757	0.84[EUR][1000 genomes]
rs62516758	0.84[EUR][1000 genomes]
rs62516759	0.84[EUR][1000 genomes]
rs62518160	0.84[EUR][1000 genomes]
rs62518180	0.84[EUR][1000 genomes]
rs62518181	0.84[EUR][1000 genomes]
rs62518182	0.84[EUR][1000 genomes]
rs62518183	0.84[EUR][1000 genomes]
rs62518185	0.84[EUR][1000 genomes]
rs62518186	0.84[EUR][1000 genomes]
rs62518187	0.84[EUR][1000 genomes]
rs62518188	0.84[EUR][1000 genomes]
rs62518189	0.84[EUR][1000 genomes]
rs62518190	0.84[EUR][1000 genomes]
rs62518191	0.90[EUR][1000 genomes]
rs62518192	0.90[EUR][1000 genomes]
rs62518193	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62518194	0.90[EUR][1000 genomes]
rs62518195	0.90[EUR][1000 genomes]
rs62518196	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62518197	0.87[EUR][1000 genomes]
rs62518198	0.87[EUR][1000 genomes]
rs62518199	0.87[EUR][1000 genomes]
rs62518200	0.90[EUR][1000 genomes]
rs62518201	0.90[EUR][1000 genomes]
rs62518202	0.90[EUR][1000 genomes]
rs62518203	0.90[EUR][1000 genomes]
rs62518204	0.90[EUR][1000 genomes]
rs62518205	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62518206	0.90[EUR][1000 genomes]
rs62518207	0.90[EUR][1000 genomes]
rs62518208	0.90[EUR][1000 genomes]
rs62518209	0.90[EUR][1000 genomes]
rs62518210	0.90[EUR][1000 genomes]
rs62518211	0.90[EUR][1000 genomes]
rs62518212	0.90[EUR][1000 genomes]
rs62518213	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62518215	0.90[EUR][1000 genomes]
rs62518216	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62518217	0.90[EUR][1000 genomes]
rs62518218	0.90[EUR][1000 genomes]
rs62518219	0.84[EUR][1000 genomes]
rs62518220	0.81[EUR][1000 genomes]
rs62518226	0.90[EUR][1000 genomes]
rs62518227	0.90[EUR][1000 genomes]
rs62518228	0.90[EUR][1000 genomes]
rs62518229	0.90[EUR][1000 genomes]
rs6997994	0.90[EUR][1000 genomes]
rs7000956	1.00[EUR][1000 genomes]
rs7002613	0.90[EUR][1000 genomes]
rs7002873	0.90[EUR][1000 genomes]
rs7008048	0.90[EUR][1000 genomes]
rs7008076	0.90[EUR][1000 genomes]
rs7015920	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7815274	0.90[EUR][1000 genomes]
rs7818409	0.90[EUR][1000 genomes]
rs7818711	0.87[EUR][1000 genomes]
rs7823429	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7824783	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7832104	0.90[EUR][1000 genomes]
rs7838246	0.90[EUR][1000 genomes]
rs7839973	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7844824	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9298625	0.81[EUR][1000 genomes]
rs9298626	0.81[EUR][1000 genomes]
rs9298627	0.81[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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak 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 miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034121	chr8:42549810-42618713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42592400-42599000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:42592400-42602000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:42592800-42598800	Weak transcription	Left Ventricle	heart
4	chr8:42594200-42599800	Enhancers	Fetal Thymus	thymus
5	chr8:42594600-42597400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:42594600-42600000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:42594800-42599800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr8:42594800-42600000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr8:42595000-42597400	Enhancers	A549	lung
10	chr8:42595000-42597400	Enhancers	Osteobl	bone
11	chr8:42595000-42597600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:42595000-42599200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr8:42595000-42599400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr8:42595000-42599800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:42595200-42597400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:42595400-42597400	Enhancers	Fetal Lung	lung
17	chr8:42595400-42597400	Enhancers	Rectal Smooth Muscle	rectum
18	chr8:42595400-42598000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:42595400-42598400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:42595600-42597400	Enhancers	Stomach Mucosa	stomach
21	chr8:42595600-42597400	Enhancers	Thymus	Thymus
22	chr8:42595600-42597800	Enhancers	Colon Smooth Muscle	Colon
23	chr8:42595600-42599400	Enhancers	Pancreas	Pancrea
24	chr8:42595800-42597400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:42595800-42597400	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:42595800-42597600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:42596000-42597400	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:42596000-42597400	Enhancers	Liver	Liver
29	chr8:42596000-42597400	Enhancers	Fetal Muscle Leg	muscle
30	chr8:42596000-42597600	Enhancers	Fetal Stomach	stomach
31	chr8:42596200-42597400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:42596400-42597600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr8:42596400-42597600	Enhancers	Brain Substantia Nigra	brain
34	chr8:42596400-42599000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:42596400-42600800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:42596400-42601000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:42596600-42598600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:42596600-42598600	Enhancers	GM12878-XiMat	blood
39	chr8:42596600-42599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:42596600-42600600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:42596600-42600600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:42596800-42597400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:42596800-42597400	Enhancers	Psoas Muscle	Psoas
44	chr8:42596800-42598600	Weak transcription	Dnd41	blood
45	chr8:42596800-42599000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:42596800-42600000	Enhancers	Primary T cells from cord blood	blood
47	chr8:42596800-42600200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:42596800-42601000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:42597000-42597400	Enhancers	Fetal Brain Male	brain
50	chr8:42597200-42597400	Enhancers	Right Ventricle	heart

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