Variant report

Variant	rs7315708
Chromosome Location	chr12:104973999-104974000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104972360..104974228-chr12:104993153..104995574,2	K562	blood:
2	chr12:104897397..104899517-chr12:104972120..104975034,2	K562	blood:
3	chr12:104973001..104975710-chr12:104978478..104980869,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12318001	0.88[ASW][hapmap];0.90[CEU][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17035879	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:104963400-104974800	Weak transcription	Gastric	stomach
3	chr12:104964200-104974800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:104964200-104976000	Weak transcription	Primary T cells from cord blood	blood
5	chr12:104965200-104975400	Weak transcription	Placenta	Placenta
6	chr12:104965400-104982200	Weak transcription	Left Ventricle	heart
7	chr12:104968800-104974200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:104969000-104977400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:104969000-104978000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:104969600-104974800	Weak transcription	Pancreas	Pancrea
13	chr12:104969800-104974600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:104970000-104977200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr12:104970200-104975400	Weak transcription	Thymus	Thymus
16	chr12:104970400-104975000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:104970400-104978400	Enhancers	Fetal Thymus	thymus
18	chr12:104970600-104974000	Enhancers	HSMM	muscle
19	chr12:104970600-104974200	Enhancers	NHDF-Ad	bronchial
20	chr12:104971000-104990600	Weak transcription	Lung	lung
21	chr12:104971200-104974200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:104971200-104976200	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:104971400-104974400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:104971400-104974800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:104971400-104977000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:104971400-104979400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:104971600-104974600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:104971600-104974600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:104971600-104976000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:104971600-104982200	Weak transcription	Right Atrium	heart
31	chr12:104971800-104977600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:104972200-104989800	Weak transcription	Fetal Brain Male	brain
33	chr12:104972600-104974400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:104972600-104977400	Enhancers	K562	blood
35	chr12:104972600-104979200	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:104972800-104974000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:104972800-104974000	Enhancers	Primary hematopoietic stem cells	blood
38	chr12:104972800-104974000	Enhancers	NH-A	brain
39	chr12:104972800-104975800	Weak transcription	Fetal Kidney	kidney
40	chr12:104972800-104976200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:104973000-104974200	Enhancers	Osteobl	bone
42	chr12:104973000-104974600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:104973000-104974600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:104973000-104974800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:104973000-104975400	Weak transcription	Colonic Mucosa	Colon
46	chr12:104973200-104974800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:104973200-104974800	Weak transcription	NHLF	lung
48	chr12:104973200-104977400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr12:104973400-104974400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:104973400-104975000	Enhancers	Primary monocytes fromperipheralblood	blood

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