Variant report

Variant	rs7971249
Chromosome Location	chr12:120537042-120537043
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120536717-120537134	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:120536804-120537176	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:120536754-120537044	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120534696..120538363-chr12:120637562..120639888,4	K562	blood:
2	chr12:120534696..120538363-chr12:120637562..120641387,4	K562	blood:
3	chr12:120426493..120428297-chr12:120534910..120538709,3	MCF-7	breast:
4	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:
5	chr12:120515805..120518721-chr12:120536191..120539691,3	MCF-7	breast:

No data

Variant related genes	Relation type
RAB35	TF binding region
ENSG00000089157	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000255857	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10849732	0.92[CEU][hapmap]
rs11064986	0.81[EUR][1000 genomes]
rs11064998	0.89[EUR][1000 genomes]
rs11065004	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065014	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065017	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065018	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12311327	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12320072	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16949946	0.83[CHB][hapmap]
rs2240311	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2393570	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2893812	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs3742044	0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs3759399	0.90[ASN][1000 genomes]
rs3852586	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3852588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3886910	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs3999575	0.91[ASN][1000 genomes]
rs4105713	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4351876	0.84[EUR][1000 genomes]
rs6490278	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs6490280	0.82[EUR][1000 genomes]
rs6490281	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6490283	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6490284	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295717	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7302874	0.92[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7304325	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7305625	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7306739	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7312811	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs7314959	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7956436	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7960725	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961738	0.84[EUR][1000 genomes]
rs7962812	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs7977281	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[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	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking 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 miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv560434	chr12:120534147-120545718	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525600-120539200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:120525800-120539200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
6	chr12:120527600-120537600	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:120527600-120538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:120527600-120539200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:120527600-120539800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:120527600-120540400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:120527600-120546000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:120528400-120537400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:120528600-120537400	Strong transcription	Gastric	stomach
14	chr12:120528600-120537800	Strong transcription	Pancreas	Pancrea
15	chr12:120528600-120538400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:120528600-120538800	Strong transcription	NHEK	skin
17	chr12:120529000-120540400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:120529000-120546800	Strong transcription	Dnd41	blood
19	chr12:120529200-120537800	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr12:120529400-120538400	Strong transcription	Lung	lung
21	chr12:120529400-120538400	Strong transcription	NHLF	lung
22	chr12:120529600-120538200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:120529600-120538200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:120529600-120538200	Weak transcription	Psoas Muscle	Psoas
25	chr12:120529600-120543000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:120529800-120539200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:120529800-120542200	Strong transcription	Fetal Intestine Large	intestine
28	chr12:120530000-120539200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:120530400-120537200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:120530400-120538400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:120530800-120540400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:120531600-120537600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:120531800-120538400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:120532000-120537800	Strong transcription	Placenta	Placenta
35	chr12:120532200-120539000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:120532200-120539600	Strong transcription	Primary T cells from cord blood	blood
37	chr12:120532400-120537200	Strong transcription	Osteobl	bone
38	chr12:120532400-120537600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:120532400-120538000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:120532400-120538000	Strong transcription	Brain Germinal Matrix	brain
41	chr12:120532400-120538000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:120532400-120538400	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr12:120532400-120539000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr12:120532400-120539800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:120532600-120538000	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:120532600-120538000	Weak transcription	Fetal Heart	heart
47	chr12:120532600-120539000	Strong transcription	GM12878-XiMat	blood
48	chr12:120532600-120539200	Strong transcription	Fetal Intestine Small	intestine
49	chr12:120532600-120539400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:120532600-120539400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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