Variant report

Variant	rs62276447
Chromosome Location	chr3:142287047-142287048
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142284471..142287739-chr3:142296498..142299510,3	MCF-7	breast:
2	chr3:142280147..142283141-chr3:142285094..142287715,3	K562	blood:
3	chr3:142282794..142284400-chr3:142286449..142288968,2	K562	blood:
4	chr3:142221745..142223373-chr3:142285789..142288084,2	K562	blood:

Variant related genes	Relation type
ENSG00000175054	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11920625	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11927681	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17552506	0.85[EUR][1000 genomes]
rs62276410	1.00[AFR][1000 genomes]
rs62276413	1.00[AFR][1000 genomes]
rs62276414	1.00[AFR][1000 genomes]
rs62276422	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62276439	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62278462	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv933680	chr3:142211643-142287189	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv591919	chr3:142219542-142308070	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142226000-142287200	Weak transcription	Right Ventricle	heart
2	chr3:142231600-142295800	Weak transcription	Small Intestine	intestine
3	chr3:142244400-142295600	Weak transcription	Fetal Heart	heart
4	chr3:142248400-142287400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:142253800-142296400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:142263600-142288000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:142265200-142287600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:142269200-142292600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:142270000-142287200	Weak transcription	Pancreas	Pancrea
10	chr3:142272600-142287400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:142272600-142296200	Weak transcription	Brain Angular Gyrus	brain
12	chr3:142272600-142296200	Weak transcription	Psoas Muscle	Psoas
13	chr3:142272800-142293400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:142274000-142287200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:142274000-142287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:142274000-142287400	Weak transcription	Gastric	stomach
17	chr3:142274000-142287400	Weak transcription	Lung	lung
18	chr3:142274200-142287600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:142274800-142296200	Weak transcription	NHLF	lung
20	chr3:142274800-142296400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:142275000-142293600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:142275600-142296400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:142275800-142287200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:142276000-142291200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:142276200-142288200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:142276800-142296600	Weak transcription	Ovary	ovary
27	chr3:142277400-142296600	Weak transcription	Esophagus	oesophagus
28	chr3:142277600-142287400	Weak transcription	Fetal Intestine Large	intestine
29	chr3:142277800-142287200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:142278400-142295800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:142278400-142296200	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:142279200-142296400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:142279800-142295600	Weak transcription	Thymus	Thymus
34	chr3:142280200-142296200	Weak transcription	Fetal Lung	lung
35	chr3:142281800-142287600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:142282000-142293600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:142282200-142296200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:142282400-142292000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr3:142282600-142296200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:142282800-142296400	Weak transcription	Fetal Kidney	kidney
41	chr3:142283800-142291400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:142283800-142296400	Weak transcription	Colonic Mucosa	Colon
43	chr3:142284000-142288000	Weak transcription	Aorta	Aorta
44	chr3:142284000-142294400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:142284000-142295800	Weak transcription	HUVEC	blood vessel
46	chr3:142284000-142296000	Weak transcription	Adipose Nuclei	Adipose
47	chr3:142284200-142293600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:142284200-142296400	Weak transcription	Left Ventricle	heart
49	chr3:142284400-142290200	Weak transcription	HSMMtube	muscle
50	chr3:142284600-142293600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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