Variant report

Variant	rs17194407
Chromosome Location	chr8:130980971-130980972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130963955..130966342-chr8:130980266..130982031,2	K562	blood:
2	chr8:130974580..130976381-chr8:130980211..130982416,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10088317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092395	0.84[AFR][1000 genomes]
rs10092658	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094672	1.00[YRI][hapmap]
rs10096758	0.84[AFR][1000 genomes]
rs10111220	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112187	1.00[YRI][hapmap]
rs10112738	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10481174	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1349847	1.00[MEX][hapmap]
rs16904182	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904183	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];1.00[EUR][1000 genomes]
rs17194571	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194770	1.00[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17279655	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28682439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718397	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718400	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720304	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720325	0.80[EUR][1000 genomes]
rs7812685	1.00[ASN][1000 genomes]
rs7817091	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825122	1.00[ASN][1000 genomes]
rs7837729	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 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	chr8:130952800-130981400	Weak transcription	Left Ventricle	heart
2	chr8:130953400-130982000	Weak transcription	Hela-S3	cervix
3	chr8:130959200-130982200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:130959200-130983400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:130965800-130983800	Weak transcription	HSMMtube	muscle
6	chr8:130966000-130981600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:130966000-130984400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:130966000-130984800	Weak transcription	Esophagus	oesophagus
9	chr8:130966200-130981600	Weak transcription	Placenta	Placenta
10	chr8:130967200-130981000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:130970400-130984800	Weak transcription	Fetal Heart	heart
12	chr8:130971200-130981000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:130971600-130981600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:130971600-130982000	Weak transcription	K562	blood
15	chr8:130971600-130984800	Weak transcription	Colonic Mucosa	Colon
16	chr8:130971600-130985400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:130972400-130981600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:130972600-130983000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:130974200-130982000	Weak transcription	NHEK	skin
20	chr8:130974200-130982400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:130974600-130983000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:130975200-130983400	Weak transcription	HSMM	muscle
23	chr8:130975200-130985600	Weak transcription	Liver	Liver
24	chr8:130975400-130981800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:130975400-130982000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:130975400-130982400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:130975400-130982600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr8:130975600-130983000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:130975600-130983800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:130975800-130981600	Weak transcription	Fetal Brain Female	brain
31	chr8:130975800-130983800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:130975800-130984800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:130975800-130984800	Weak transcription	Lung	lung
34	chr8:130975800-130985000	Weak transcription	Gastric	stomach
35	chr8:130975800-130994000	Weak transcription	Pancreas	Pancrea
36	chr8:130976000-130983800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:130976000-130983800	Weak transcription	Brain Anterior Caudate	brain
38	chr8:130976000-130983800	Weak transcription	Fetal Kidney	kidney
39	chr8:130976000-130983800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:130976000-130988000	Weak transcription	Psoas Muscle	Psoas
41	chr8:130976400-130983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:130976800-130981000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:130976800-130983400	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:130976800-130983800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:130977400-130981200	Weak transcription	Fetal Intestine Large	intestine
46	chr8:130977400-130981800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:130977400-130983800	Weak transcription	Spleen	Spleen
48	chr8:130977400-130984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:130977600-130981600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:130977600-130981800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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