Variant report

Variant	rs6434347
Chromosome Location	chr2:190414293-190414294
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190411762..190417364-chr2:190417405..190425188,8	MCF-7	breast:
2	chr2:190412312..190414434-chr2:190416137..190418653,2	K562	blood:
3	chr2:190406738..190410558-chr2:190411483..190414461,4	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12693541	0.82[TSI][hapmap]
rs13404407	0.83[CHD][hapmap]
rs16831659	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs1966704	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2043933	0.90[CEU][hapmap];0.93[GIH][hapmap];0.93[EUR][1000 genomes]
rs2165180	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667287	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs7596205	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs994226	0.90[CEU][hapmap];0.92[EUR][1000 genomes]

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190407400-190424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:190408000-190416600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:190408200-190416600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:190408200-190420600	Weak transcription	Small Intestine	intestine
5	chr2:190408800-190416400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:190408800-190422400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:190410600-190416400	Weak transcription	Aorta	Aorta
8	chr2:190411200-190420600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:190412800-190415200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:190413000-190414800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:190413000-190424200	Weak transcription	Fetal Heart	heart
12	chr2:190413400-190414400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:190413400-190414400	Enhancers	K562	blood
14	chr2:190413400-190414600	Enhancers	Dnd41	blood
15	chr2:190413400-190414800	Enhancers	HepG2	liver
16	chr2:190413400-190415000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:190413400-190415200	Enhancers	Fetal Muscle Leg	muscle
18	chr2:190413600-190414400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:190413600-190414400	Enhancers	Left Ventricle	heart
20	chr2:190413600-190414600	Enhancers	Fetal Stomach	stomach
21	chr2:190413600-190414800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:190413600-190416200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:190413600-190416800	Enhancers	Fetal Lung	lung
24	chr2:190413800-190414400	Enhancers	Stomach Mucosa	stomach
25	chr2:190413800-190414400	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:190413800-190414400	Flanking Active TSS	A549	lung
27	chr2:190413800-190414400	Enhancers	Hela-S3	cervix
28	chr2:190413800-190414800	Enhancers	Colon Smooth Muscle	Colon
29	chr2:190413800-190414800	Enhancers	Osteobl	bone
30	chr2:190413800-190415000	Enhancers	Adipose Nuclei	Adipose
31	chr2:190413800-190415000	Enhancers	Ovary	ovary
32	chr2:190413800-190416600	Enhancers	Liver	Liver
33	chr2:190414000-190424600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:190414200-190414400	Active TSS	HSMM	muscle
35	chr2:190414200-190414600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:190414200-190415200	Enhancers	HSMMtube	muscle
37	chr2:190414200-190415200	Enhancers	NHDF-Ad	bronchial
38	chr2:190414200-190416400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:190414200-190416600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:190414200-190416600	Weak transcription	Fetal Kidney	kidney
41	chr2:190414200-190416800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:190414200-190416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:190414200-190419000	Weak transcription	Placenta	Placenta
44	chr2:190414200-190420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:190414200-190420600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:190414200-190422600	Weak transcription	HMEC	breast
47	chr2:190414200-190422800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:190414200-190423200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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