Variant report

Variant	rs7630115
Chromosome Location	chr3:142210801-142210802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142210650..142212164-chr3:142212182..142213935,2	K562	blood:
2	chr3:142205435..142207089-chr3:142209696..142212453,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10935460	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs10935463	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1129391	0.81[ASN][1000 genomes]
rs11708470	0.84[EUR][1000 genomes]
rs11715514	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11916455	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs13066441	0.84[EUR][1000 genomes]
rs13070239	0.95[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap]
rs13075259	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13082648	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs13085247	0.84[EUR][1000 genomes]
rs13085261	0.95[CHB][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs13092593	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13099184	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1485393	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs16852267	0.82[CHB][hapmap]
rs2227931	0.84[EUR][1000 genomes]
rs2306699	0.95[CHB][hapmap]
rs3762799	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs3923464	0.84[EUR][1000 genomes]
rs4256152	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4558780	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4582075	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6440085	0.83[EUR][1000 genomes]
rs6786320	0.94[CHB][hapmap]
rs6809448	0.83[GIH][hapmap]
rs7623785	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs7636909	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7641914	0.81[ASN][1000 genomes]
rs7643377	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs7647329	0.95[CHB][hapmap];0.92[CHD][hapmap]
rs953135	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs9814159	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs9816736	0.83[MKK][hapmap]
rs9829125	0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[ASN][1000 genomes]
rs9859834	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs9867210	0.95[CHB][hapmap];0.95[CHD][hapmap]

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	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

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	chr3:142200800-142213400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:142200800-142214000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr3:142200800-142219800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:142201000-142218200	Strong transcription	Adipose Nuclei	Adipose
12	chr3:142201000-142218600	Strong transcription	Fetal Thymus	thymus
13	chr3:142201000-142239600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:142201000-142240600	Weak transcription	Fetal Brain Male	brain
15	chr3:142201200-142218000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:142201200-142226800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:142201400-142217000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:142201600-142216000	Strong transcription	Primary T cells from cord blood	blood
19	chr3:142201600-142216000	Strong transcription	GM12878-XiMat	blood
20	chr3:142201600-142218600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr3:142201600-142219000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:142201600-142273200	Weak transcription	Esophagus	oesophagus
23	chr3:142201800-142218000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr3:142201800-142240600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:142201800-142243600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr3:142201800-142273800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:142202000-142221200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr3:142202000-142223800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:142202000-142231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:142202000-142235200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr3:142202000-142239600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:142202200-142218000	Strong transcription	Fetal Intestine Large	intestine
33	chr3:142202200-142218600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:142202200-142240200	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:142202400-142214400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:142202400-142216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr3:142202400-142219400	Strong transcription	Dnd41	blood
38	chr3:142202600-142218200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:142202800-142211000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:142202800-142218200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:142202800-142219000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr3:142203000-142255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:142203200-142218000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:142203600-142218200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:142203800-142212400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:142203800-142223000	Weak transcription	Lung	lung
47	chr3:142203800-142225400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:142203800-142255200	Weak transcription	Gastric	stomach
49	chr3:142204200-142228000	Weak transcription	Pancreas	Pancrea
50	chr3:142204200-142253000	Weak transcription	Brain Substantia Nigra	brain

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