Variant report

Variant	rs17776622
Chromosome Location	chr8:10676497-10676498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10447720..10448261-chr8:10675847..10676686,2	K562	blood:
2	chr8:10674954..10678350-chr8:10693952..10697087,3	K562	blood:
3	chr8:10675871..10677525-chr8:10687580..10689455,2	MCF-7	breast:
4	chr8:10671204..10673781-chr8:10675039..10678414,4	K562	blood:
5	chr8:10674524..10677009-chr8:10677940..10680830,2	K562	blood:
6	chr8:10670666..10672714-chr8:10674903..10676605,2	K562	blood:
7	chr8:10674524..10677009-chr8:10677940..10682794,6	K562	blood:
8	chr8:10461544..10463468-chr8:10674781..10677553,2	K562	blood:

No data

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10503409	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10503410	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs1106740	0.83[EUR][1000 genomes]
rs11776368	1.00[CHD][hapmap]
rs11995539	0.83[EUR][1000 genomes]
rs11998382	0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs12155811	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12156345	1.00[CHD][hapmap]
rs12375394	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12750	0.95[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs1549792	0.83[EUR][1000 genomes]
rs1549793	0.83[EUR][1000 genomes]
rs17718772	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs17720365	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17721089	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17774331	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17774398	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs17774627	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs17776404	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17776427	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17776497	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17776946	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2005310	0.83[EUR][1000 genomes]
rs2409654	1.00[CHD][hapmap]
rs2409655	1.00[CHD][hapmap]
rs4240671	1.00[CHD][hapmap]
rs4310166	1.00[CHD][hapmap]
rs4326350	1.00[CHD][hapmap]
rs4841458	1.00[CHD][hapmap]
rs55637012	0.83[EUR][1000 genomes]
rs55848210	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56023918	0.83[EUR][1000 genomes]
rs56046029	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56109041	0.83[EUR][1000 genomes]
rs56122299	0.83[EUR][1000 genomes]
rs57348261	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58193873	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6984391	0.82[EUR][1000 genomes]
rs7002757	0.82[EUR][1000 genomes]
rs7009920	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs714370	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73200742	0.81[EUR][1000 genomes]
rs73208756	0.83[EUR][1000 genomes]
rs73208757	0.83[EUR][1000 genomes]
rs73208762	0.83[EUR][1000 genomes]
rs73208766	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73208769	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73208773	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73208775	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73208778	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73208781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208782	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73208785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73208788	0.91[AFR][1000 genomes]
rs73208789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73208795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73209913	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73209918	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73209921	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73209922	0.87[EUR][1000 genomes]
rs7817252	0.94[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7817654	0.81[EUR][1000 genomes]
rs7826036	0.83[EUR][1000 genomes]
rs7827063	0.83[EUR][1000 genomes]
rs7838335	0.90[CEU][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs7845731	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs891558	0.95[CEU][hapmap]
rs891559	0.95[CEU][hapmap]
rs9650658	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs9650659	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv429860	chr8:10615990-10685890	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17776622	DEFB136	cis	parietal	SCAN
rs17776622	MFHAS1	cis	cerebellum	SCAN
rs17776622	CTSB	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10647000-10681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:10648200-10683400	Weak transcription	Brain Angular Gyrus	brain
3	chr8:10657400-10681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:10657400-10685800	Weak transcription	Psoas Muscle	Psoas
5	chr8:10657600-10681800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:10657800-10680600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:10657800-10680600	Weak transcription	HSMMtube	muscle
8	chr8:10659600-10682400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:10660000-10679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:10660400-10677000	Weak transcription	NHDF-Ad	bronchial
11	chr8:10663000-10681200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:10663000-10681400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:10665400-10678600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:10665400-10680800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:10665600-10680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:10665800-10688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:10666400-10678600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
20	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:10667400-10677400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:10668400-10682400	Weak transcription	Colonic Mucosa	Colon
24	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:10668600-10681400	Weak transcription	A549	lung
26	chr8:10669200-10679600	Strong transcription	Dnd41	blood
27	chr8:10669200-10692800	Strong transcription	Primary B cells from cord blood	blood
28	chr8:10669400-10676800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:10669400-10692200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr8:10669600-10691800	Strong transcription	GM12878-XiMat	blood
31	chr8:10669600-10692800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:10669800-10676800	Strong transcription	Aorta	Aorta
33	chr8:10670200-10680800	Weak transcription	Placenta	Placenta
34	chr8:10670200-10692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:10670400-10692800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:10671000-10676600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:10671000-10681000	Weak transcription	Osteobl	bone
38	chr8:10671400-10676800	Strong transcription	Fetal Stomach	stomach
39	chr8:10671400-10679600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:10671400-10692000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:10672000-10681200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:10673000-10686800	Strong transcription	Fetal Thymus	thymus
43	chr8:10673000-10692000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr8:10673200-10679800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr8:10673200-10682600	Weak transcription	Fetal Brain Male	brain
46	chr8:10673200-10683000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:10673200-10686600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:10673200-10692200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:10673200-10692400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:10673400-10677400	Strong transcription	NHEK	skin

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