Variant report

Variant	rs7312010
Chromosome Location	chr12:12612436-12612437
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	chr12:12610566..12612701-chr12:12615346..12617410,2	K562	blood:
2	chr12:12601179..12604143-chr12:12610929..12612812,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1019340	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1019341	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1030069	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10459098	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10743985	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10772563	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10845533	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10845537	0.82[ASN][1000 genomes]
rs10845539	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10845541	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10845545	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10845546	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10845551	0.96[ASN][1000 genomes]
rs11561172	0.82[EUR][1000 genomes]
rs11609375	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11834080	0.84[ASN][1000 genomes]
rs1468876	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2216264	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2417187	0.82[EUR][1000 genomes]
rs3751261	0.91[ASN][1000 genomes]
rs3925170	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4488294	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4547192	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4763825	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4763826	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4763829	0.82[EUR][1000 genomes]
rs4763830	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488526	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132512	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7295080	0.81[EUR][1000 genomes]
rs7309503	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311364	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7313825	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7315626	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7954752	0.82[ASN][1000 genomes]
rs7961703	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7967038	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7969020	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7969252	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7969270	0.81[ASN][1000 genomes]
rs7969849	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7969984	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs879445	0.82[ASN][1000 genomes]
rs9412	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898810	chr12:12600080-12627410	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12590600-12614600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:12594400-12618200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:12595200-12618600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:12596000-12620200	Weak transcription	HSMM	muscle
5	chr12:12596000-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:12596200-12620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:12596800-12618200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:12596800-12618200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:12597000-12617800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:12597400-12618200	Weak transcription	Gastric	stomach
11	chr12:12597400-12629000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:12599000-12618600	Weak transcription	Left Ventricle	heart
13	chr12:12600600-12616800	Weak transcription	Fetal Stomach	stomach
14	chr12:12601000-12620200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:12603200-12618400	Weak transcription	Esophagus	oesophagus
16	chr12:12603400-12618600	Weak transcription	Pancreas	Pancrea
17	chr12:12603800-12614200	Weak transcription	Aorta	Aorta
18	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:12604000-12628600	Weak transcription	Fetal Lung	lung
20	chr12:12604600-12613600	Weak transcription	Fetal Intestine Small	intestine
21	chr12:12604600-12618600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:12605200-12618400	Weak transcription	Liver	Liver
23	chr12:12607800-12629400	Weak transcription	Fetal Kidney	kidney
24	chr12:12608400-12627200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:12608400-12629600	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:12609000-12623400	Weak transcription	A549	lung
27	chr12:12609200-12626800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:12609800-12628400	Weak transcription	NHLF	lung
29	chr12:12610000-12614200	Weak transcription	GM12878-XiMat	blood
30	chr12:12610000-12618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:12610200-12614000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:12610200-12614000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:12610200-12618600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:12610200-12620200	Weak transcription	Osteobl	bone
35	chr12:12610400-12613400	Weak transcription	Fetal Intestine Large	intestine
36	chr12:12610400-12618400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:12610800-12622000	Weak transcription	NHEK	skin
38	chr12:12610800-12623000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:12610800-12623200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
41	chr12:12611000-12613400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:12611000-12613400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:12611000-12613800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:12611000-12613800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:12611000-12613800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:12611000-12613800	Weak transcription	Fetal Thymus	thymus
47	chr12:12611000-12614000	Weak transcription	Thymus	Thymus
48	chr12:12611000-12614200	Weak transcription	Small Intestine	intestine
49	chr12:12611000-12618400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:12611000-12618600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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