Variant report

Variant	rs2724609
Chromosome Location	chr12:11847232-11847233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11800656..11803468-chr12:11847048..11850278,3	MCF-7	breast:
2	chr12:11800032..11801851-chr12:11845652..11848182,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2724650	0.98[AFR][1000 genomes]
rs2724655	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs2724656	0.90[AFR][1000 genomes]
rs2856319	0.92[YRI][hapmap]
rs2856320	1.00[YRI][hapmap]
rs2954983	0.91[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:11822000-11850000	Weak transcription	HMEC	breast
3	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:11827800-11851800	Weak transcription	Ovary	ovary
7	chr12:11831000-11848600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:11831600-11852600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:11832600-11848200	Weak transcription	HSMMtube	muscle
10	chr12:11837200-11858600	Weak transcription	Fetal Intestine Large	intestine
11	chr12:11838000-11850000	Weak transcription	HUVEC	blood vessel
12	chr12:11838000-11850400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:11838000-11858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:11838200-11848200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:11838400-11848000	Weak transcription	Primary B cells from cord blood	blood
16	chr12:11838400-11848000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:11838400-11854200	Weak transcription	Fetal Heart	heart
18	chr12:11838600-11848000	Weak transcription	NH-A	brain
19	chr12:11838800-11872200	Weak transcription	Primary T cells from cord blood	blood
20	chr12:11839200-11857800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:11839400-11853400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:11839400-11859000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:11840800-11854400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:11840800-11859200	Weak transcription	Fetal Kidney	kidney
25	chr12:11841200-11854200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:11841200-11856800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:11841600-11847800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:11841600-11848200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:11841600-11853600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:11841800-11848200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:11841800-11848200	Weak transcription	Gastric	stomach
32	chr12:11841800-11853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:11841800-11853800	Weak transcription	Small Intestine	intestine
34	chr12:11841800-11854200	Weak transcription	Fetal Lung	lung
35	chr12:11841800-11854200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:11841800-11860200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:11841800-11867400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:11842000-11848000	Weak transcription	Stomach Mucosa	stomach
39	chr12:11842400-11847800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:11842400-11848000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:11842400-11854200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:11842600-11848000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:11843000-11847800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:11843000-11848200	Weak transcription	Fetal Stomach	stomach
45	chr12:11843000-11848200	Weak transcription	Osteobl	bone
46	chr12:11843000-11851800	Weak transcription	HSMM	muscle
47	chr12:11843200-11847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:11843200-11848200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:11843200-11848200	Weak transcription	NHDF-Ad	bronchial
50	chr12:11843200-11852800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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