Variant report

Variant	rs11171691
Chromosome Location	chr12:39699101-39699102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39698698..39701515-chr12:39705485..39708006,2	K562	blood:

Variant related genes	Relation type
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11171568	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11171662	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11171666	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11171669	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11171682	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11171732	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11171786	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11171794	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11171797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11171834	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11171844	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11171857	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11171940	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11171949	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11171955	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11171957	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172024	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172035	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172105	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11172168	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11172204	1.00[AFR][1000 genomes]
rs11172263	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11172347	1.00[AFR][1000 genomes]
rs11172359	1.00[AFR][1000 genomes]
rs11172373	1.00[AFR][1000 genomes]
rs11172471	1.00[AFR][1000 genomes]
rs11172474	1.00[AFR][1000 genomes]
rs11172502	1.00[AFR][1000 genomes]
rs12227092	1.00[AFR][1000 genomes]
rs12227642	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12228285	1.00[AFR][1000 genomes]
rs12228664	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12231250	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12231735	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17127036	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17127119	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56154721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56326136	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56885420	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57785083	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58125663	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58648215	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59380486	1.00[AFR][1000 genomes]
rs60505849	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61101304	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964039	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9788260	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv899013	chr12:39567945-39732430	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv470286	chr12:39651893-39729700	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39682000-39699200	Weak transcription	Hela-S3	cervix
2	chr12:39685200-39714400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:39686400-39699600	Weak transcription	HMEC	breast
4	chr12:39686600-39722400	Weak transcription	GM12878-XiMat	blood
5	chr12:39686600-39725400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:39686800-39729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:39686800-39738800	Weak transcription	Pancreas	Pancrea
8	chr12:39687200-39726400	Weak transcription	Fetal Intestine Small	intestine
9	chr12:39687600-39723800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:39688400-39709800	Weak transcription	Ovary	ovary
11	chr12:39688400-39724600	Weak transcription	Esophagus	oesophagus
12	chr12:39688400-39726400	Weak transcription	Aorta	Aorta
13	chr12:39689000-39699600	Weak transcription	Fetal Heart	heart
14	chr12:39689000-39724000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:39689600-39702200	Weak transcription	Right Ventricle	heart
16	chr12:39689600-39725400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:39690400-39703000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:39690400-39715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:39690600-39701400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:39690600-39711600	Weak transcription	Placenta	Placenta
21	chr12:39690800-39700800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:39690800-39704400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:39691800-39703400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:39693800-39705600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:39694000-39699800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:39694800-39699800	Weak transcription	HSMM	muscle
27	chr12:39695000-39726400	Weak transcription	Fetal Intestine Large	intestine
28	chr12:39695000-39726400	Weak transcription	HepG2	liver
29	chr12:39695200-39699400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:39695200-39701200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:39695400-39700400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:39695400-39701600	Strong transcription	A549	lung
33	chr12:39695400-39701800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:39695400-39704400	Weak transcription	NHEK	skin
35	chr12:39695600-39699400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:39695600-39703200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:39695600-39724000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:39695600-39742000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:39695800-39702400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:39695800-39703400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:39696000-39701400	Strong transcription	Liver	Liver
42	chr12:39696000-39701600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:39696200-39701800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:39696200-39705400	Weak transcription	HSMMtube	muscle
45	chr12:39696400-39699400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:39696600-39701600	Strong transcription	Brain Germinal Matrix	brain
47	chr12:39696600-39762200	Weak transcription	Fetal Brain Male	brain
48	chr12:39696800-39699200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:39696800-39705800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:39696800-39712000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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