Variant report

Variant	rs12682269
Chromosome Location	chr8:48343122-48343123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48342648..48346409-chr8:48649323..48652579,3	MCF-7	breast:
2	chr8:48338641..48341078-chr8:48342654..48345157,3	K562	blood:
3	chr8:48342172..48345072-chr8:48346372..48349504,3	K562	blood:
4	chr8:48337815..48339899-chr8:48341496..48344035,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10086987	0.80[EUR][1000 genomes]
rs10099236	0.80[CEU][hapmap]
rs10102598	0.80[EUR][1000 genomes]
rs1038797	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10808752	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10957074	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10957549	0.81[ASN][1000 genomes]
rs10958058	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1106607	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11774001	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11775514	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11775628	0.93[EUR][1000 genomes]
rs11779308	0.81[EUR][1000 genomes]
rs11779423	0.82[EUR][1000 genomes]
rs11781727	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11782572	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs11783141	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11785228	0.98[EUR][1000 genomes]
rs12541086	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12543823	0.95[EUR][1000 genomes]
rs12544329	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs12547513	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549996	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs12550067	0.80[EUR][1000 genomes]
rs12680669	0.97[EUR][1000 genomes]
rs13259872	0.82[EUR][1000 genomes]
rs13259913	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2087656	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2130879	0.93[EUR][1000 genomes]
rs2172121	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2362554	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs34099416	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs35045730	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35235599	0.83[EUR][1000 genomes]
rs4242439	0.82[EUR][1000 genomes]
rs4388466	0.82[EUR][1000 genomes]
rs4495437	0.80[EUR][1000 genomes]
rs4498545	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4608108	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4872957	0.82[EUR][1000 genomes]
rs4873101	0.80[CEU][hapmap]
rs4873102	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873106	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4873293	0.96[EUR][1000 genomes]
rs4873395	0.90[CHB][hapmap]
rs4873437	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6472229	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6472452	0.80[CEU][hapmap]
rs6473996	0.80[CEU][hapmap]
rs6981790	0.94[EUR][1000 genomes]
rs6982620	0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6990123	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6994218	0.94[EUR][1000 genomes]
rs7012341	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7819806	0.82[EUR][1000 genomes]
rs7826284	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7839134	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7846620	0.80[CEU][hapmap]
rs902619	1.00[CEU][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48290800-48347400	Weak transcription	HepG2	liver
2	chr8:48308400-48343600	Weak transcription	Colonic Mucosa	Colon
3	chr8:48310000-48350600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:48310600-48343600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:48310800-48354800	Weak transcription	Right Ventricle	heart
6	chr8:48311600-48353000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr8:48312000-48349000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:48312200-48353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:48312800-48358600	Weak transcription	Thymus	Thymus
10	chr8:48312800-48367600	Weak transcription	Pancreas	Pancrea
11	chr8:48312800-48377000	Weak transcription	Esophagus	oesophagus
12	chr8:48313000-48343400	Weak transcription	Aorta	Aorta
13	chr8:48313200-48361000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:48313400-48352800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr8:48323000-48354200	Weak transcription	Spleen	Spleen
16	chr8:48323000-48364400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:48323200-48343400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:48326000-48366000	Weak transcription	Gastric	stomach
19	chr8:48326200-48343400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:48326200-48354800	Weak transcription	HMEC	breast
21	chr8:48326200-48362600	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:48326800-48347400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:48328400-48362600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:48328600-48348600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:48328600-48351000	Weak transcription	NHEK	skin
26	chr8:48328600-48351800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:48328600-48352200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:48328600-48352600	Weak transcription	Dnd41	blood
29	chr8:48328600-48361800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:48328600-48362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:48328600-48364000	Weak transcription	Fetal Intestine Large	intestine
32	chr8:48328600-48371400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:48328600-48374600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:48328800-48350600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:48334200-48348200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:48334600-48352800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:48335000-48362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:48335400-48343400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:48335400-48363400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:48335600-48352400	Weak transcription	Primary B cells from cord blood	blood
41	chr8:48337800-48357000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr8:48339400-48343600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:48340200-48343400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:48340200-48356800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:48340400-48343400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:48340400-48364000	Weak transcription	Lung	lung
47	chr8:48340600-48343800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:48340600-48365600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:48341200-48344200	Enhancers	Placenta	Placenta
50	chr8:48341400-48343600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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