Variant report

Variant	rs729486
Chromosome Location	chr2:173894165-173894166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173892252..173896882-chr2:173939144..173942444,6	MCF-7	breast:
2	chr2:173892758..173895374-chr2:173911350..173913199,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091428	Chromatin interaction
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12987382	0.82[JPT][hapmap]
rs2305462	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754750	0.88[JPT][hapmap]
rs3754751	0.88[JPT][hapmap]
rs3769220	0.82[JPT][hapmap]
rs3769222	0.88[JPT][hapmap]
rs3820839	1.00[CHB][hapmap];1.00[JPT][hapmap];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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173868000-173902000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:173877200-173901600	Weak transcription	Gastric	stomach
3	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:173881400-173897200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:173887400-173894800	Weak transcription	Left Ventricle	heart
6	chr2:173888800-173905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:173888800-173906600	Weak transcription	Lung	lung
8	chr2:173891000-173896200	Weak transcription	Placenta	Placenta
9	chr2:173891000-173908000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:173891400-173894200	Enhancers	Colon Smooth Muscle	Colon
11	chr2:173891400-173896400	Enhancers	Fetal Heart	heart
12	chr2:173892200-173894600	Enhancers	Fetal Intestine Large	intestine
13	chr2:173892400-173894400	Enhancers	Fetal Intestine Small	intestine
14	chr2:173892600-173894200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:173892600-173897200	Enhancers	Fetal Muscle Leg	muscle
16	chr2:173892600-173897400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:173892600-173906800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:173892800-173894400	Weak transcription	Fetal Kidney	kidney
19	chr2:173892800-173894600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:173892800-173894800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:173892800-173895400	Weak transcription	NHEK	skin
22	chr2:173892800-173901600	Weak transcription	Pancreas	Pancrea
23	chr2:173892800-173902400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:173893000-173895000	Weak transcription	HMEC	breast
25	chr2:173893000-173898600	Weak transcription	A549	lung
26	chr2:173893000-173900600	Weak transcription	Brain Angular Gyrus	brain
27	chr2:173893000-173908800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:173893000-173913200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:173893200-173894800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:173893200-173898200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:173893200-173901600	Weak transcription	Right Atrium	heart
32	chr2:173893200-173902400	Weak transcription	Aorta	Aorta
33	chr2:173893200-173902600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:173893200-173922000	Weak transcription	Brain Anterior Caudate	brain
35	chr2:173893600-173896800	Strong transcription	Liver	Liver
36	chr2:173893800-173895000	Weak transcription	Stomach Mucosa	stomach
37	chr2:173893800-173908200	Weak transcription	Right Ventricle	heart
38	chr2:173894000-173897400	Weak transcription	NHDF-Ad	bronchial
39	chr2:173894000-173897600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:173894000-173897600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:173894000-173898400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:173894000-173898800	Weak transcription	Psoas Muscle	Psoas
43	chr2:173894000-173901600	Weak transcription	Ovary	ovary
44	chr2:173894000-173902000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:173894000-173909200	Weak transcription	Fetal Stomach	stomach

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