Variant report

Variant	rs3769550
Chromosome Location	chr2:33583046-33583047
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	chr2:33582788..33585263-chr2:33585367..33587703,2	MCF-7	breast:
2	chr2:33571757..33573919-chr2:33583040..33585706,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1017677	0.89[CHB][hapmap]
rs10198960	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11885449	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs11891105	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs11892861	0.92[ASN][1000 genomes]
rs13424241	0.84[JPT][hapmap]
rs17012911	0.80[CHB][hapmap]
rs17012917	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs17012922	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs1869449	0.89[CHB][hapmap]
rs2015189	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs2290426	0.94[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs2305502	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28414403	0.86[ASN][1000 genomes]
rs28437398	0.86[ASN][1000 genomes]
rs28709139	0.87[ASN][1000 genomes]
rs34447926	0.87[ASN][1000 genomes]
rs3769549	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3769552	0.95[ASN][1000 genomes]
rs59867835	0.92[ASN][1000 genomes]
rs6543707	0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6711211	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33548200-33588400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:33549000-33588800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:33558400-33592200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:33564200-33591600	Weak transcription	Psoas Muscle	Psoas
6	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:33570600-33587400	Weak transcription	Fetal Heart	heart
9	chr2:33570800-33588400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:33571000-33590600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:33571600-33591600	Weak transcription	Brain Substantia Nigra	brain
12	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
13	chr2:33581000-33585400	Weak transcription	Liver	Liver
14	chr2:33581000-33589600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:33581200-33585800	Weak transcription	Left Ventricle	heart
16	chr2:33581400-33584000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:33581400-33585400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:33581400-33585400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:33581400-33588400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:33581400-33588400	Weak transcription	HUVEC	blood vessel
21	chr2:33581400-33588800	Weak transcription	A549	lung
22	chr2:33581400-33589000	Weak transcription	NHLF	lung
23	chr2:33581400-33589200	Weak transcription	Fetal Lung	lung
24	chr2:33581400-33590400	Weak transcription	Ovary	ovary
25	chr2:33581400-33590400	Weak transcription	Pancreas	Pancrea
26	chr2:33581400-33591000	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:33581400-33591600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:33581400-33594400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:33581400-33602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:33581600-33591600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:33581600-33592000	Weak transcription	Placenta	Placenta
32	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
33	chr2:33582000-33584000	Weak transcription	NHDF-Ad	bronchial
34	chr2:33582200-33585800	Weak transcription	NH-A	brain
35	chr2:33582200-33589000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:33582400-33585400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:33582400-33586400	Weak transcription	Osteobl	bone
38	chr2:33582400-33589000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:33582400-33589600	Weak transcription	Esophagus	oesophagus
40	chr2:33582600-33584000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:33582600-33585200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:33582600-33585200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:33582600-33588000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:33582600-33590400	Weak transcription	Aorta	Aorta
45	chr2:33582600-33590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:33582800-33583600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:33582800-33601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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