Variant report

Variant	rs4280429
Chromosome Location	chr2:173991269-173991270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173938392..173941767-chr2:173987528..173992085,5	MCF-7	breast:
2	chr2:173988691..173991779-chr2:173993829..173996976,3	K562	blood:
3	chr2:173989210..173991573-chr2:173993201..173996190,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12997078	0.80[EUR][1000 genomes]
rs13020796	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2278883	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34014656	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34681024	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67683956	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
3	chr2:173974800-173991400	Weak transcription	K562	blood
4	chr2:173978200-173995200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
6	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
7	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:173984400-173994200	Weak transcription	Gastric	stomach
9	chr2:173984400-173994600	Weak transcription	Pancreas	Pancrea
10	chr2:173984600-173994800	Weak transcription	Liver	Liver
11	chr2:173984600-173995400	Weak transcription	Fetal Stomach	stomach
12	chr2:173984800-173991400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:173985200-173995400	Weak transcription	Adipose Nuclei	Adipose
14	chr2:173985400-173995400	Weak transcription	Ovary	ovary
15	chr2:173986000-173995000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:173986200-173997200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:173986800-173995200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:173987600-173992000	Enhancers	HMEC	breast
19	chr2:173988000-173991400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:173988000-173999200	Weak transcription	Dnd41	blood
21	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
22	chr2:173989200-173991400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
24	chr2:173989600-173991400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:173989600-173991400	Weak transcription	Spleen	Spleen
26	chr2:173989600-173991400	Weak transcription	NH-A	brain
27	chr2:173989600-173992400	Weak transcription	Lung	lung
28	chr2:173989600-173995400	Weak transcription	Aorta	Aorta
29	chr2:173989600-173995400	Weak transcription	Psoas Muscle	Psoas
30	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
31	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:173989800-173991400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:173989800-173991400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:173989800-173991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:173989800-173991400	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:173989800-173991400	Weak transcription	HSMM	muscle
37	chr2:173989800-173991400	Weak transcription	Osteobl	bone
38	chr2:173989800-173993200	Weak transcription	Esophagus	oesophagus
39	chr2:173989800-173994000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:173989800-173995200	Weak transcription	NHLF	lung
41	chr2:173989800-173995400	Weak transcription	Left Ventricle	heart
42	chr2:173989800-173995400	Weak transcription	Right Atrium	heart
43	chr2:173990000-173991400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:173990000-173991400	Weak transcription	NHDF-Ad	bronchial
45	chr2:173990000-173994200	Weak transcription	Fetal Heart	heart
46	chr2:173990000-173995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:173990000-173995400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:173990200-173991400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:173990200-173991400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:173990200-173991400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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