Variant report

Variant	rs4670545
Chromosome Location	chr2:36593161-36593162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:36593081-36593268	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:36592022-36593243	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr2:36592116-36593358	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr2:36593053-36597288	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:36581644..36585884-chr2:36589453..36593565,5	MCF-7	breast:
2	chr2:36582061..36584144-chr2:36592487..36595427,3	MCF-7	breast:
3	chr2:36587815..36589906-chr2:36591154..36593717,2	MCF-7	breast:

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000260025	Chromatin interaction
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10167894	1.00[ASN][1000 genomes]
rs10178804	1.00[ASN][1000 genomes]
rs10192912	1.00[ASN][1000 genomes]
rs11885395	1.00[ASN][1000 genomes]
rs11898050	1.00[ASN][1000 genomes]
rs12712500	1.00[ASN][1000 genomes]
rs17480064	1.00[ASN][1000 genomes]
rs4670547	1.00[ASN][1000 genomes]
rs55653640	1.00[ASN][1000 genomes]
rs9308991	1.00[ASN][1000 genomes]
rs9308992	1.00[ASN][1000 genomes]
rs997602	1.00[ASN][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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36585200-36596400	Weak transcription	Pancreas	Pancrea
2	chr2:36585800-36596400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:36586000-36593600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:36586200-36603600	Weak transcription	Brain Germinal Matrix	brain
5	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
6	chr2:36586600-36596400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:36586800-36593800	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:36587000-36593800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:36587200-36593800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:36587400-36594000	Weak transcription	Fetal Stomach	stomach
11	chr2:36587800-36593800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:36587800-36594000	Weak transcription	Right Ventricle	heart
13	chr2:36588000-36593600	Weak transcription	Fetal Kidney	kidney
14	chr2:36588200-36593800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:36588400-36593600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:36588800-36593600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:36589000-36594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:36589200-36593600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:36589200-36593800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:36589400-36594000	Weak transcription	Fetal Brain Male	brain
21	chr2:36589400-36594800	Weak transcription	Fetal Brain Female	brain
22	chr2:36589600-36593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:36589600-36595000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:36589800-36593600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:36589800-36593600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:36589800-36593600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:36589800-36593600	Weak transcription	Brain Angular Gyrus	brain
28	chr2:36589800-36593800	Weak transcription	Brain Anterior Caudate	brain
29	chr2:36589800-36593800	Weak transcription	Fetal Intestine Large	intestine
30	chr2:36589800-36593800	Weak transcription	Ovary	ovary
31	chr2:36589800-36593800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:36589800-36593800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:36589800-36594000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:36589800-36594800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:36589800-36594800	Enhancers	Adipose Nuclei	Adipose
36	chr2:36589800-36596200	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:36589800-36596400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:36590000-36594400	Genic enhancers	Osteobl	bone
39	chr2:36590000-36594600	Enhancers	HMEC	breast
40	chr2:36590000-36594800	Weak transcription	Stomach Mucosa	stomach
41	chr2:36590000-36598200	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr2:36590200-36593400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:36590200-36593800	Weak transcription	Small Intestine	intestine
44	chr2:36590200-36594000	Enhancers	NHEK	skin
45	chr2:36590400-36593400	Weak transcription	Fetal Lung	lung
46	chr2:36590600-36594600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:36590600-36594800	Enhancers	Hela-S3	cervix
48	chr2:36590800-36597200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:36591000-36593800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:36591000-36595200	Weak transcription	Esophagus	oesophagus

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