Variant report

Variant	rs7641914
Chromosome Location	chr3:142274534-142274535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142273455..142275768-chr3:142281419..142283017,2	K562	blood:
2	chr3:142272907..142275901-chr3:142280170..142282746,2	MCF-7	breast:
3	chr3:142272679..142274553-chr3:142297271..142300247,2	MCF-7	breast:
4	chr3:142272067..142275350-chr3:142296306..142300271,3	K562	blood:

Variant related genes	Relation type
ENSG00000175054	Chromatin interaction
ENSG00000242390	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1129391	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708470	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11715514	0.80[EUR][1000 genomes]
rs11718899	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11916455	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11923612	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12629001	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12629713	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12634255	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12638158	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12639363	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13063075	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13065800	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13066441	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13068397	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13070239	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13072346	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13072355	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13085247	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13085261	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13089219	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13092234	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13092593	0.83[EUR][1000 genomes]
rs13093304	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2227929	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2227931	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3923464	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4256152	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4558780	0.81[EUR][1000 genomes]
rs4582075	0.81[EUR][1000 genomes]
rs6440085	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6776402	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7432464	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7630115	0.81[ASN][1000 genomes]
rs7636909	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142204200-142281400	Weak transcription	Colonic Mucosa	Colon
2	chr3:142226000-142287200	Weak transcription	Right Ventricle	heart
3	chr3:142231600-142295800	Weak transcription	Small Intestine	intestine
4	chr3:142240800-142281600	Weak transcription	Fetal Brain Male	brain
5	chr3:142241000-142280800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:142242400-142275800	Weak transcription	NHEK	skin
7	chr3:142244400-142295600	Weak transcription	Fetal Heart	heart
8	chr3:142248400-142287400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:142253400-142284800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:142253400-142284800	Weak transcription	Brain Substantia Nigra	brain
11	chr3:142253800-142296400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:142256200-142283600	Weak transcription	Aorta	Aorta
13	chr3:142259800-142285600	Strong transcription	Dnd41	blood
14	chr3:142263000-142285400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr3:142263400-142286200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr3:142263600-142288000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:142263800-142285600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:142263800-142286600	Strong transcription	Liver	Liver
19	chr3:142264000-142279200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:142264000-142285200	Strong transcription	Fetal Thymus	thymus
21	chr3:142265200-142276600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:142265200-142285000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr3:142265200-142287600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:142265400-142283600	Weak transcription	HSMMtube	muscle
25	chr3:142266000-142276000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:142266200-142278600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:142266400-142275000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:142266400-142285600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:142266600-142277000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:142267000-142286600	Strong transcription	Primary B cells from cord blood	blood
31	chr3:142267400-142276400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr3:142267400-142279200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:142267600-142282000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:142267800-142279200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr3:142267800-142285200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:142268000-142275400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:142268000-142276000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:142268000-142276600	Strong transcription	GM12878-XiMat	blood
39	chr3:142268400-142277000	Strong transcription	Fetal Muscle Leg	muscle
40	chr3:142268600-142275400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr3:142268600-142276000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr3:142268800-142284200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:142269000-142277200	Strong transcription	Left Ventricle	heart
44	chr3:142269200-142278000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:142269200-142292600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr3:142269400-142277800	Weak transcription	NHDF-Ad	bronchial
47	chr3:142269600-142275000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr3:142270000-142275400	Strong transcription	Placenta	Placenta
49	chr3:142270000-142287200	Weak transcription	Pancreas	Pancrea
50	chr3:142270200-142285000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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