Variant report

Variant	rs12943456
Chromosome Location	chr17:37662204-37662205
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	chr17:37658571..37662393-chr17:37663066..37667120,4	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12940881	1.00[EUR][1000 genomes]
rs12944298	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946275	1.00[AMR][1000 genomes]
rs12950784	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12953178	1.00[EUR][1000 genomes]
rs2132141	1.00[EUR][1000 genomes]
rs34079604	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34207136	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34518049	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34904106	1.00[EUR][1000 genomes]
rs34910003	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35270682	0.82[AFR][1000 genomes]
rs35366897	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs35442489	0.82[AFR][1000 genomes]
rs35499078	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs35550184	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35598597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35701477	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35821333	1.00[EUR][1000 genomes]
rs35829705	1.00[ASW][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap]
rs35896550	1.00[EUR][1000 genomes]
rs35929798	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35986399	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36025330	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252626	1.00[EUR][1000 genomes]
rs4252646	1.00[EUR][1000 genomes]
rs4252647	1.00[EUR][1000 genomes]
rs4252652	1.00[EUR][1000 genomes]
rs4252660	1.00[EUR][1000 genomes]
rs4988981	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57059040	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58452873	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114874	1.00[AMR][1000 genomes]
rs6503512	1.00[YRI][hapmap]
rs71369760	1.00[EUR][1000 genomes]
rs71369763	1.00[EUR][1000 genomes]
rs71369765	1.00[EUR][1000 genomes]
rs71369773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369774	0.81[AFR][1000 genomes]
rs71369775	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369777	1.00[AMR][1000 genomes]
rs7212530	1.00[EUR][1000 genomes]
rs7218668	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7219611	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219683	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7224847	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226215	0.95[AFR][1000 genomes]
rs7226222	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8064372	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8068102	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs8069194	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8073144	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8074199	1.00[YRI][hapmap]
rs8076843	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap]
rs8077259	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8077629	0.90[ASW][hapmap];0.91[YRI][hapmap]
rs8081144	1.00[ASW][hapmap];0.93[LWK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs9747666	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37624000-37680400	Weak transcription	Fetal Brain Male	brain
2	chr17:37624000-37690600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:37626600-37690600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:37628400-37682200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:37634200-37688600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:37635200-37680600	Weak transcription	Fetal Heart	heart
7	chr17:37636200-37685800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr17:37640400-37691000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:37642000-37689600	Strong transcription	Fetal Thymus	thymus
10	chr17:37642600-37680400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:37643200-37688600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr17:37643400-37689000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:37643800-37668800	Strong transcription	Fetal Stomach	stomach
14	chr17:37644000-37685200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:37644400-37688200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:37645000-37663200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:37645000-37663400	Strong transcription	Thymus	Thymus
18	chr17:37645000-37669200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:37645000-37689000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:37645000-37689600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr17:37645400-37685600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr17:37645600-37689200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr17:37646000-37684800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:37646000-37688400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr17:37646400-37662400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:37646400-37664400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:37646400-37668800	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:37646400-37688200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:37646400-37688600	Strong transcription	Fetal Intestine Large	intestine
30	chr17:37646400-37689800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr17:37646600-37668600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:37646600-37687200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:37646600-37688200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr17:37646600-37688800	Strong transcription	Liver	Liver
35	chr17:37646600-37689600	Strong transcription	Dnd41	blood
36	chr17:37646600-37690200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:37646800-37662400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:37646800-37663000	Strong transcription	Fetal Muscle Leg	muscle
39	chr17:37646800-37663800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:37646800-37666400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:37646800-37682200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:37646800-37683800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr17:37646800-37685600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:37646800-37686200	Strong transcription	Adipose Nuclei	Adipose
45	chr17:37646800-37688200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr17:37646800-37688600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:37646800-37688600	Strong transcription	Placenta	Placenta
48	chr17:37646800-37689000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr17:37646800-37689000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:37646800-37689000	Strong transcription	Primary B cells from peripheral blood	blood

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