Variant report

Variant	rs10875694
Chromosome Location	chr12:48281660-48281661
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48272376..48273992-chr12:48281327..48283565,2	MCF-7	breast:
2	chr12:48280571..48282115-chr12:48285370..48287447,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12298585	0.87[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	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48265000-48283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:48277000-48286200	Weak transcription	Right Atrium	heart
4	chr12:48277200-48289600	Weak transcription	Esophagus	oesophagus
5	chr12:48277200-48290600	Weak transcription	Gastric	stomach
6	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:48277400-48282200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:48277600-48282200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:48277600-48287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:48277600-48289000	Weak transcription	Hela-S3	cervix
11	chr12:48277800-48283000	Weak transcription	Primary B cells from cord blood	blood
12	chr12:48278400-48282400	Weak transcription	Small Intestine	intestine
13	chr12:48278400-48282400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:48278400-48283000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:48278400-48287400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:48278400-48289600	Weak transcription	Stomach Mucosa	stomach
17	chr12:48278600-48287800	Strong transcription	NHEK	skin
18	chr12:48279200-48285800	Weak transcription	Colonic Mucosa	Colon
19	chr12:48279200-48286000	Weak transcription	Lung	lung
20	chr12:48279200-48287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:48279400-48282400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:48279400-48282800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:48279400-48283000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:48279400-48283200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:48279400-48283200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:48279400-48283200	Weak transcription	Placenta	Placenta
27	chr12:48279400-48286600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:48279600-48283000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:48279800-48282200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:48279800-48282400	Weak transcription	Spleen	Spleen
31	chr12:48279800-48282600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:48279800-48282800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:48279800-48283000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:48279800-48283000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:48279800-48283000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:48280000-48282600	Weak transcription	Fetal Thymus	thymus
37	chr12:48280000-48283000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:48280200-48286600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:48280200-48286600	Weak transcription	Primary T cells from cord blood	blood
40	chr12:48280400-48282800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:48280400-48282800	Weak transcription	K562	blood
42	chr12:48280400-48284800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:48280400-48284800	Weak transcription	HSMM	muscle
44	chr12:48280600-48282400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:48280600-48284600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:48280800-48282000	Weak transcription	GM12878-XiMat	blood
47	chr12:48280800-48283200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:48280800-48284800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:48280800-48284800	Weak transcription	NHDF-Ad	bronchial
50	chr12:48280800-48285000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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