Variant report

Variant	rs7431811
Chromosome Location	chr3:142214312-142214313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13324817	1.00[ASN][1000 genomes]
rs16852314	0.86[ASN][1000 genomes]
rs28539899	1.00[ASN][1000 genomes]
rs55764539	1.00[ASN][1000 genomes]
rs56921402	1.00[ASN][1000 genomes]
rs57014591	1.00[ASN][1000 genomes]
rs57792207	0.86[ASN][1000 genomes]
rs61300208	1.00[ASN][1000 genomes]
rs6765659	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6768692	1.00[ASN][1000 genomes]
rs6775426	1.00[ASN][1000 genomes]
rs6778183	1.00[ASN][1000 genomes]
rs6783167	1.00[ASN][1000 genomes]
rs73002081	1.00[ASN][1000 genomes]
rs73002088	1.00[ASN][1000 genomes]
rs73002089	1.00[ASN][1000 genomes]
rs73002093	1.00[ASN][1000 genomes]
rs73864409	1.00[ASN][1000 genomes]
rs7620319	1.00[ASN][1000 genomes]
rs7623858	1.00[ASN][1000 genomes]
rs7628187	1.00[ASN][1000 genomes]
rs7634495	1.00[ASN][1000 genomes]
rs7644891	0.86[ASN][1000 genomes]
rs9815050	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9821817	1.00[ASN][1000 genomes]
rs9824559	1.00[ASN][1000 genomes]
rs9828365	0.86[ASN][1000 genomes]
rs9829403	1.00[ASN][1000 genomes]
rs9832315	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9835086	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9846817	1.00[ASN][1000 genomes]
rs9848694	0.88[AFR][1000 genomes]
rs9867946	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	nsv528954	chr3:142164017-142219542	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	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
9	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142167400-142234600	Weak transcription	Psoas Muscle	Psoas
2	chr3:142198400-142214400	Weak transcription	Stomach Mucosa	stomach
3	chr3:142199200-142216000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:142200000-142215200	Weak transcription	NHLF	lung
5	chr3:142200000-142223200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:142200400-142243800	Weak transcription	Fetal Heart	heart
7	chr3:142200600-142271800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:142200800-142219800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:142201000-142218200	Strong transcription	Adipose Nuclei	Adipose
10	chr3:142201000-142218600	Strong transcription	Fetal Thymus	thymus
11	chr3:142201000-142239600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:142201000-142240600	Weak transcription	Fetal Brain Male	brain
13	chr3:142201200-142218000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:142201200-142226800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:142201400-142217000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:142201600-142216000	Strong transcription	Primary T cells from cord blood	blood
17	chr3:142201600-142216000	Strong transcription	GM12878-XiMat	blood
18	chr3:142201600-142218600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr3:142201600-142219000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:142201600-142273200	Weak transcription	Esophagus	oesophagus
21	chr3:142201800-142218000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr3:142201800-142240600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:142201800-142243600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr3:142201800-142273800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:142202000-142221200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:142202000-142223800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:142202000-142231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:142202000-142235200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr3:142202000-142239600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:142202200-142218000	Strong transcription	Fetal Intestine Large	intestine
31	chr3:142202200-142218600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:142202200-142240200	Weak transcription	Colon Smooth Muscle	Colon
33	chr3:142202400-142214400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:142202400-142216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr3:142202400-142219400	Strong transcription	Dnd41	blood
36	chr3:142202600-142218200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:142202800-142218200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:142202800-142219000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr3:142203000-142255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:142203200-142218000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:142203600-142218200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:142203800-142223000	Weak transcription	Lung	lung
43	chr3:142203800-142225400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:142203800-142255200	Weak transcription	Gastric	stomach
45	chr3:142204200-142228000	Weak transcription	Pancreas	Pancrea
46	chr3:142204200-142253000	Weak transcription	Brain Substantia Nigra	brain
47	chr3:142204200-142273200	Weak transcription	Spleen	Spleen
48	chr3:142204200-142281400	Weak transcription	Colonic Mucosa	Colon
49	chr3:142205200-142217200	Weak transcription	HSMMtube	muscle
50	chr3:142205400-142214800	Weak transcription	Right Ventricle	heart

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