Variant report

Variant	rs7137924
Chromosome Location	chr12:104385883-104385884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104384261..104388673-chr12:104456948..104460032,3	K562	blood:
2	chr12:104369091..104370992-chr12:104385433..104387266,2	K562	blood:
3	chr12:104371533..104374205-chr12:104383696..104386140,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111727	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000120820	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10507172	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10507173	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861148	0.81[ASN][1000 genomes]
rs10861153	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111858	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11111862	0.83[ASN][1000 genomes]
rs11111863	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11111865	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111866	1.00[ASN][1000 genomes]
rs12579643	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2164747	0.81[ASN][1000 genomes]
rs2293620	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2293624	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3751210	0.95[ASN][1000 genomes]
rs3817602	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829301	0.87[ASN][1000 genomes]
rs4135052	0.83[ASN][1000 genomes]
rs4135054	0.83[ASN][1000 genomes]
rs4135068	0.83[ASN][1000 genomes]
rs4135079	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4135102	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4135103	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4135109	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4135113	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4135115	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4135126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60033863	0.93[ASN][1000 genomes]
rs61646543	0.90[ASN][1000 genomes]
rs7295650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305770	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388292	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73390443	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
2	chr12:104376800-104386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:104377800-104390200	Weak transcription	Fetal Heart	heart
4	chr12:104377800-104391000	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:104377800-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:104379600-104386200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:104379600-104387000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:104379800-104386200	Weak transcription	NHDF-Ad	bronchial
9	chr12:104380200-104386200	Weak transcription	Small Intestine	intestine
10	chr12:104380600-104388000	Weak transcription	NHEK	skin
11	chr12:104380800-104386000	Weak transcription	Colonic Mucosa	Colon
12	chr12:104380800-104386400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:104380800-104386400	Weak transcription	Fetal Stomach	stomach
14	chr12:104380800-104386600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:104380800-104387000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:104380800-104387200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:104380800-104387200	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:104380800-104387800	Weak transcription	HSMMtube	muscle
19	chr12:104380800-104388200	Weak transcription	Psoas Muscle	Psoas
20	chr12:104380800-104391400	Weak transcription	Ovary	ovary
21	chr12:104380800-104395600	Weak transcription	Aorta	Aorta
22	chr12:104380800-104400200	Weak transcription	NHLF	lung
23	chr12:104381000-104386000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:104381000-104386000	Weak transcription	Fetal Brain Female	brain
25	chr12:104381000-104386000	Weak transcription	HepG2	liver
26	chr12:104381000-104386400	Weak transcription	Fetal Kidney	kidney
27	chr12:104381000-104386600	Weak transcription	Brain Anterior Caudate	brain
28	chr12:104381000-104386600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:104381000-104387000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:104381000-104387200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:104381000-104387400	Weak transcription	Brain Germinal Matrix	brain
32	chr12:104381000-104387400	Weak transcription	Fetal Intestine Large	intestine
33	chr12:104381000-104387600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:104381000-104387800	Weak transcription	Primary T cells from cord blood	blood
35	chr12:104381000-104387800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:104381000-104387800	Weak transcription	HUVEC	blood vessel
37	chr12:104381000-104388000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:104381000-104388400	Weak transcription	Spleen	Spleen
39	chr12:104381000-104389000	Weak transcription	Thymus	Thymus
40	chr12:104381000-104390600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:104381000-104390800	Weak transcription	K562	blood
42	chr12:104381000-104391200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:104381000-104391200	Weak transcription	Right Ventricle	heart
44	chr12:104381000-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:104381600-104386400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:104381600-104392800	Weak transcription	Left Ventricle	heart
47	chr12:104382400-104386000	Strong transcription	Osteobl	bone
48	chr12:104382400-104386200	Strong transcription	HSMM	muscle
49	chr12:104382600-104389000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:104383400-104387800	Weak transcription	Muscle Satellite Cultured Cells	--

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