Variant report

Variant	rs2305511
Chromosome Location	chr8:131138575-131138576
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131134192..131138136-chr8:131138332..131141936,3	K562	blood:
2	chr8:131132549..131136188-chr8:131136344..131140463,4	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10505548	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.80[ASN][1000 genomes]
rs10505549	0.84[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap]
rs10956513	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10956515	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap]
rs10956517	0.82[ASN][1000 genomes]
rs11781752	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.87[ASN][1000 genomes]
rs12541083	0.84[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs12541938	0.83[ASN][1000 genomes]
rs12542411	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12545910	0.86[ASN][1000 genomes]
rs12546088	0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs12546603	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.88[ASN][1000 genomes]
rs12547397	0.81[ASN][1000 genomes]
rs12547540	0.91[ASN][1000 genomes]
rs12675390	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12675543	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12675865	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12676836	0.84[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.86[ASN][1000 genomes]
rs12679283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12681954	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs12681955	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1467048	0.80[GIH][hapmap]
rs1469286	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs1549455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16904190	0.83[CHB][hapmap]
rs16904197	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs16904199	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16904204	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16904208	0.92[ASN][1000 genomes]
rs16904212	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs16904219	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs16904223	0.84[ASN][1000 genomes]
rs16904231	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.81[ASN][1000 genomes]
rs16904239	0.84[ASW][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs16904241	0.84[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs16904249	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1960661	0.85[ASN][1000 genomes]
rs1974313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2027377	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2045091	0.82[CEU][hapmap];0.81[ASN][1000 genomes]
rs2395989	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs36004574	0.85[ASN][1000 genomes]
rs3812476	0.84[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4236749	0.82[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs4461944	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4733569	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4733573	0.84[ASW][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs4733772	0.86[ASN][1000 genomes]
rs4733782	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4733783	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs4733788	0.84[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs55759245	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55993168	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56182202	0.81[ASN][1000 genomes]
rs57198371	0.82[ASN][1000 genomes]
rs59297824	0.89[ASN][1000 genomes]
rs62524627	0.88[ASN][1000 genomes]
rs62524628	0.88[ASN][1000 genomes]
rs62524629	0.88[ASN][1000 genomes]
rs62524632	0.98[ASN][1000 genomes]
rs62524635	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62524643	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62524644	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62524647	0.86[ASN][1000 genomes]
rs62524649	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62525884	0.87[ASN][1000 genomes]
rs62525885	0.91[ASN][1000 genomes]
rs62525888	0.84[ASN][1000 genomes]
rs62525889	0.84[ASN][1000 genomes]
rs6991714	1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.90[ASN][1000 genomes]
rs6996106	0.87[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs6996469	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7006336	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs716077	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72722330	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722366	0.87[ASN][1000 genomes]
rs72722371	0.87[ASN][1000 genomes]
rs7462286	0.84[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.88[ASN][1000 genomes]
rs754021	0.91[CHB][hapmap];1.00[JPT][hapmap]

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
5	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:131118400-131140400	Strong transcription	Placenta	Placenta
8	chr8:131118400-131140800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
10	chr8:131118600-131140800	Strong transcription	Primary B cells from cord blood	blood
11	chr8:131118800-131140200	Strong transcription	Fetal Thymus	thymus
12	chr8:131118800-131141000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:131119600-131140800	Strong transcription	Liver	Liver
14	chr8:131124000-131140800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:131124800-131145800	Weak transcription	Right Ventricle	heart
16	chr8:131125600-131141800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr8:131125600-131143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:131125800-131151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:131126400-131141600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:131127800-131140400	Strong transcription	Left Ventricle	heart
21	chr8:131128000-131143600	Weak transcription	Aorta	Aorta
22	chr8:131128000-131143600	Weak transcription	Pancreas	Pancrea
23	chr8:131128200-131138600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
25	chr8:131128400-131139000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:131128800-131147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
28	chr8:131129000-131138800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:131129200-131141000	Strong transcription	Adipose Nuclei	Adipose
30	chr8:131129200-131144400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:131129200-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:131130000-131138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:131130200-131138600	Weak transcription	Fetal Kidney	kidney
34	chr8:131130200-131139000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:131130400-131138800	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:131130800-131138800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:131130800-131139000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:131130800-131139800	Weak transcription	GM12878-XiMat	blood
40	chr8:131130800-131146000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:131132600-131138600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:131132600-131140800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr8:131132600-131143000	Weak transcription	Fetal Intestine Small	intestine
44	chr8:131133000-131138600	Weak transcription	Brain Germinal Matrix	brain
45	chr8:131133000-131143600	Weak transcription	Esophagus	oesophagus
46	chr8:131133000-131147000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:131133200-131139000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:131133600-131138600	Weak transcription	Lung	lung
49	chr8:131133800-131138600	Weak transcription	Gastric	stomach
50	chr8:131133800-131138600	Weak transcription	Ovary	ovary

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