Variant report

Variant	rs9645801
Chromosome Location	chr12:56713844-56713845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56707850..56716783-chr12:56721562..56730442,13	MCF-7	breast:
2	chr12:56710492..56713076-chr12:56713802..56716464,2	MCF-7	breast:
3	chr12:56709258..56711619-chr12:56711666..56713846,2	MCF-7	breast:
4	chr12:56708683..56714635-chr12:56725804..56730296,12	K562	blood:

Variant related genes	Relation type
ENSG00000257727	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000135473	Chromatin interaction

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

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

rs_ID	r²[population]
rs2291361	1.00[LWK][hapmap]

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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56710200-56716600	Weak transcription	Small Intestine	intestine
2	chr12:56710600-56715600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:56710600-56715800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:56710600-56715800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:56710600-56715800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:56710600-56716200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:56710600-56716200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:56710600-56716400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:56710600-56717400	Weak transcription	Fetal Heart	heart
10	chr12:56710600-56717800	Weak transcription	Stomach Mucosa	stomach
11	chr12:56710600-56718200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:56710600-56726800	Weak transcription	NH-A	brain
13	chr12:56710800-56714000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:56710800-56714600	Strong transcription	Fetal Thymus	thymus
15	chr12:56710800-56715600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:56710800-56715800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:56710800-56716200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:56710800-56719000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:56710800-56726400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:56710800-56726600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:56711000-56714200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr12:56711000-56717400	Weak transcription	Psoas Muscle	Psoas
23	chr12:56711000-56718400	Weak transcription	Hela-S3	cervix
24	chr12:56711000-56722400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:56711000-56722600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:56711000-56722800	Strong transcription	Fetal Muscle Leg	muscle
27	chr12:56711200-56714000	Strong transcription	Primary T cells from cord blood	blood
28	chr12:56711200-56714000	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:56711200-56722400	Strong transcription	Fetal Stomach	stomach
30	chr12:56711400-56714000	Strong transcription	Brain Substantia Nigra	brain
31	chr12:56711400-56721400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:56711400-56722600	Strong transcription	Liver	Liver
33	chr12:56711400-56726600	Weak transcription	Fetal Brain Male	brain
34	chr12:56711600-56714200	Strong transcription	GM12878-XiMat	blood
35	chr12:56711600-56719000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:56711600-56721800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:56711600-56722600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:56711600-56722800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:56711800-56714000	Strong transcription	HSMM	muscle
40	chr12:56711800-56722800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:56712000-56714000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:56712000-56714000	Strong transcription	Adipose Nuclei	Adipose
43	chr12:56712000-56714000	Strong transcription	Brain Anterior Caudate	brain
44	chr12:56712000-56714000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:56712000-56714000	Strong transcription	Spleen	Spleen
46	chr12:56712000-56714200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr12:56712000-56714400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:56712000-56722400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:56712000-56722600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:56712000-56722600	Strong transcription	Stomach Smooth Muscle	stomach

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