Variant report

Variant	rs12649452
Chromosome Location	chr4:111037159-111037160
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	chr4:111036455-111038759	K562	blood:	n/a	n/a

Variant related genes	Relation type
RN7SL275P	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11936079	0.85[MEX][hapmap]
rs12504798	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12512099	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs17041386	0.85[MEX][hapmap]
rs35757511	0.87[AMR][1000 genomes];0.85[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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111011000-111040200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:111013000-111040400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:111013600-111040400	Weak transcription	Fetal Kidney	kidney
4	chr4:111024200-111049800	Weak transcription	Fetal Stomach	stomach
5	chr4:111026000-111061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:111026400-111037400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:111026400-111041200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:111026400-111046000	Weak transcription	Left Ventricle	heart
9	chr4:111026400-111049200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:111026600-111040000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:111026600-111040000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:111026600-111040000	Weak transcription	Dnd41	blood
13	chr4:111028000-111040000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:111028000-111047600	Weak transcription	Gastric	stomach
15	chr4:111028600-111037200	Weak transcription	Fetal Intestine Small	intestine
16	chr4:111028600-111040400	Weak transcription	HMEC	breast
17	chr4:111028600-111040600	Weak transcription	NHLF	lung
18	chr4:111028600-111040800	Weak transcription	NH-A	brain
19	chr4:111028600-111041200	Weak transcription	Small Intestine	intestine
20	chr4:111028600-111054000	Weak transcription	HepG2	liver
21	chr4:111028800-111037400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:111028800-111037600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:111028800-111040600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:111029600-111040800	Weak transcription	Fetal Lung	lung
25	chr4:111029600-111054200	Weak transcription	Liver	Liver
26	chr4:111029800-111039800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:111029800-111041000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:111029800-111041000	Weak transcription	HSMM	muscle
29	chr4:111030000-111040800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:111030000-111060800	Weak transcription	A549	lung
31	chr4:111030000-111093800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:111030000-111098800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:111031200-111038600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:111031200-111040400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:111031200-111041000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:111031200-111043800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:111031400-111037400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:111031400-111037600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:111031400-111040200	Weak transcription	Osteobl	bone
40	chr4:111031400-111040600	Weak transcription	NHDF-Ad	bronchial
41	chr4:111031400-111041000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:111031800-111066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:111033400-111040200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:111033400-111040200	Weak transcription	NHEK	skin
45	chr4:111033600-111037800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:111033600-111040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:111033800-111037800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:111033800-111038200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:111034800-111037400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:111035200-111040400	Weak transcription	GM12878-XiMat	blood

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