Variant report

Variant	rs12944316
Chromosome Location	chr17:37493521-37493522
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	chr17:37492064..37493936-chr17:37496192..37498090,2	K562	blood:
2	chr17:37493150..37495079-chr17:37497859..37499627,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12937609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12939229	1.00[EUR][1000 genomes]
rs12940956	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12942766	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12943974	1.00[EUR][1000 genomes]
rs12945363	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34170152	1.00[EUR][1000 genomes]
rs34362498	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34821956	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35152961	1.00[EUR][1000 genomes]
rs35269184	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35790121	1.00[EUR][1000 genomes]
rs35829705	1.00[EUR][1000 genomes]
rs35846515	1.00[EUR][1000 genomes]
rs35853230	0.81[AFR][1000 genomes]
rs35953148	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36106822	1.00[EUR][1000 genomes]
rs59775294	0.81[AFR][1000 genomes]
rs6503512	1.00[EUR][1000 genomes]
rs71369740	1.00[EUR][1000 genomes]
rs71369741	1.00[EUR][1000 genomes]
rs71369742	1.00[EUR][1000 genomes]
rs71369746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369747	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71369774	1.00[AMR][1000 genomes]
rs71577045	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7212780	0.84[AFR][1000 genomes]
rs8064372	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8068102	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8069194	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8071061	1.00[EUR][1000 genomes]
rs8072801	1.00[EUR][1000 genomes]
rs8073144	1.00[EUR][1000 genomes]
rs8074199	0.88[AFR][1000 genomes]
rs8077259	1.00[EUR][1000 genomes]
rs8077822	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8079346	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8080830	0.83[AFR][1000 genomes]
rs8081561	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
7	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
8	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers 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	78 gene(s)	inside rSNPs	diseases
9	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv510709	chr17:37438419-37508395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37436000-37496200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:37436800-37497800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr17:37453400-37507800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:37454000-37511600	Weak transcription	Hela-S3	cervix
5	chr17:37455200-37499800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:37455400-37495600	Weak transcription	Right Ventricle	heart
7	chr17:37455800-37495600	Weak transcription	Brain Germinal Matrix	brain
8	chr17:37456200-37499400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr17:37457600-37497800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:37458000-37495000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:37459400-37495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:37460200-37497600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr17:37460400-37498400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:37461000-37497400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr17:37461000-37497600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr17:37461200-37495200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:37461200-37495400	Weak transcription	Thymus	Thymus
18	chr17:37461200-37515400	Weak transcription	Lung	lung
19	chr17:37461400-37522000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:37463800-37495000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:37463800-37528200	Weak transcription	HSMMtube	muscle
22	chr17:37472400-37497600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:37472800-37495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:37472800-37497600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr17:37472800-37499400	Weak transcription	Fetal Muscle Leg	muscle
26	chr17:37481600-37495400	Weak transcription	Fetal Thymus	thymus
27	chr17:37482400-37494800	Weak transcription	Liver	Liver
28	chr17:37482400-37497800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:37483400-37499800	Weak transcription	Gastric	stomach
30	chr17:37484200-37500400	Weak transcription	Pancreas	Pancrea
31	chr17:37485200-37495000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr17:37485200-37520800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr17:37485400-37497400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:37485600-37497600	Weak transcription	Fetal Lung	lung
35	chr17:37485600-37497800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:37487000-37494800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:37487200-37499600	Weak transcription	NHDF-Ad	bronchial
38	chr17:37487400-37495400	Weak transcription	HUVEC	blood vessel
39	chr17:37488000-37497400	Weak transcription	Brain Angular Gyrus	brain
40	chr17:37488800-37499800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:37488800-37515400	Weak transcription	Psoas Muscle	Psoas
42	chr17:37488800-37516800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr17:37489000-37522200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr17:37489200-37495400	Weak transcription	Primary T cells from cord blood	blood
45	chr17:37489400-37516800	Weak transcription	Aorta	Aorta
46	chr17:37489600-37494000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:37489600-37495200	Weak transcription	Fetal Stomach	stomach
48	chr17:37489800-37497600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr17:37490800-37494800	Weak transcription	Dnd41	blood
50	chr17:37491000-37495200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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