Variant report

Variant	rs11124511
Chromosome Location	chr2:36602368-36602369
allele	C/T
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	chr2:36601666-36602420	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:36597881-36602660	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr2:36597942-36602440	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr2:36601158-36602621	SK-N-SH	brain:	n/a	chr2:36602177-36602186
5	NFIC	chr2:36601193-36602616	SK-N-SH	brain:	n/a	n/a
6	FOXA2	chr2:36601851-36602373	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:36596157..36599052-chr2:36601566..36604769,3	MCF-7	breast:
2	chr2:36594282..36595810-chr2:36601465..36603754,2	MCF-7	breast:
3	chr2:36598192..36600031-chr2:36601938..36604063,3	MCF-7	breast:

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

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12615281	0.81[EUR][1000 genomes]
rs3755219	0.84[CEU][hapmap]
rs3770951	0.84[CEU][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11124511	HEATR5B	cis	parietal	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36603600	Weak transcription	Brain Germinal Matrix	brain
2	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:36592400-36605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:36593600-36602400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:36594000-36603600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:36594200-36605400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:36595200-36606000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:36595400-36603600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:36595600-36604200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:36595600-36604400	Enhancers	Colon Smooth Muscle	Colon
11	chr2:36596600-36603200	Enhancers	HepG2	liver
12	chr2:36597000-36603400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:36598200-36602600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:36598400-36603800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:36598600-36603400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:36598600-36603400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:36598600-36607000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:36598800-36602800	Weak transcription	Liver	Liver
19	chr2:36598800-36603200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:36599000-36603400	Weak transcription	Brain Substantia Nigra	brain
21	chr2:36599000-36603400	Enhancers	NHLF	lung
22	chr2:36599000-36604000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:36599200-36602800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:36599200-36603600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:36599400-36602800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:36599400-36603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:36599400-36609600	Enhancers	HMEC	breast
28	chr2:36599800-36603400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:36599800-36605400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:36600000-36607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:36600000-36609000	Genic enhancers	HSMM	muscle
32	chr2:36600200-36602400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:36600400-36603000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:36600400-36612000	Genic enhancers	Osteobl	bone
35	chr2:36600600-36602800	Weak transcription	Fetal Kidney	kidney
36	chr2:36600600-36608800	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr2:36600800-36602800	Weak transcription	Fetal Intestine Large	intestine
38	chr2:36600800-36603000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:36600800-36603400	Weak transcription	Fetal Stomach	stomach
40	chr2:36600800-36603600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:36600800-36607200	Weak transcription	Pancreas	Pancrea
42	chr2:36601000-36602400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:36601000-36602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:36601000-36602800	Weak transcription	Colonic Mucosa	Colon
45	chr2:36601000-36602800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:36601000-36603000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:36601000-36603200	Enhancers	NHEK	skin
48	chr2:36601000-36603400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:36601000-36603400	Weak transcription	Brain Anterior Caudate	brain
50	chr2:36601000-36603400	Weak transcription	Ovary	ovary

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