Variant report

Variant	rs17603947
Chromosome Location	chr12:31444218-31444219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31441936..31444471-chr12:31461300..31463621,2	K562	blood:
2	chr12:31442106..31444745-chr12:31447754..31449545,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17576073	0.81[CHB][hapmap]
rs17576143	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs17576150	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293039	0.81[CHB][hapmap]
rs2293040	0.81[CHB][hapmap]
rs2374000	0.94[ASN][1000 genomes]
rs3741872	0.81[ASN][1000 genomes]
rs3741873	0.81[ASN][1000 genomes]
rs3782688	0.81[CHB][hapmap]
rs4930974	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.94[ASN][1000 genomes]
rs4931480	0.89[ASN][1000 genomes]
rs7138117	0.98[ASN][1000 genomes]
rs9971805	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	esv2758303	chr12:31125467-31491104	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	esv2759890	chr12:31125467-31491104	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428276	chr12:31125467-31491104	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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 miRNA target site	51 gene(s)	inside rSNPs	diseases
7	esv2751043	chr12:31148662-31499671	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv515974	chr12:31201717-31452750	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv1045497	chr12:31213735-31458547	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	esv2751053	chr12:31225710-31484881	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	esv2754121	chr12:31225710-31493435	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv2751054	chr12:31225710-31513718	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	esv2757495	chr12:31234168-31444218	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	esv35092	chr12:31239600-31484833	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
16	esv2751071	chr12:31239600-31493435	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
17	esv2751072	chr12:31239600-31499671	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
18	nsv430477	chr12:31239600-31513718	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
19	esv2751077	chr12:31278031-31499671	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
20	nsv524737	chr12:31399901-31464663	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31413800-31449200	Weak transcription	Pancreas	Pancrea
2	chr12:31426000-31460200	Weak transcription	Aorta	Aorta
3	chr12:31427000-31447000	Weak transcription	NHLF	lung
4	chr12:31427200-31459800	Weak transcription	Gastric	stomach
5	chr12:31427600-31460800	Strong transcription	Fetal Thymus	thymus
6	chr12:31428600-31458600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:31428600-31470000	Weak transcription	Small Intestine	intestine
8	chr12:31429600-31451000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:31430600-31462200	Weak transcription	Psoas Muscle	Psoas
10	chr12:31430800-31460600	Weak transcription	Right Ventricle	heart
11	chr12:31431400-31451400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:31432800-31449200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:31433000-31470200	Weak transcription	Stomach Mucosa	stomach
14	chr12:31433400-31446200	Weak transcription	Fetal Heart	heart
15	chr12:31433400-31451400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:31434000-31456200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:31434400-31451200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:31434600-31451000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:31434600-31459800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:31434800-31450200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:31434800-31451000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:31434800-31451200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:31434800-31451200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:31435000-31449400	Strong transcription	GM12878-XiMat	blood
25	chr12:31435000-31450600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr12:31435200-31449800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:31435200-31450400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:31435200-31451000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:31435200-31451000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:31435200-31451000	Strong transcription	HepG2	liver
31	chr12:31435400-31445600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:31435400-31450000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:31435400-31450400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr12:31435600-31458200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:31435600-31460600	Strong transcription	Dnd41	blood
36	chr12:31436200-31455400	Weak transcription	Fetal Brain Male	brain
37	chr12:31436400-31448600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:31436600-31451400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:31437000-31451200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr12:31437400-31448600	Strong transcription	Primary T cells from cord blood	blood
41	chr12:31437600-31445400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:31437600-31453000	Strong transcription	Thymus	Thymus
43	chr12:31437800-31449600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:31438000-31448200	Strong transcription	Primary B cells from cord blood	blood
45	chr12:31438400-31459600	Strong transcription	Hela-S3	cervix
46	chr12:31438800-31447200	Weak transcription	Fetal Brain Female	brain
47	chr12:31439000-31453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:31439400-31444400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:31440000-31444400	Weak transcription	Left Ventricle	heart
50	chr12:31440000-31446000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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