Variant report

Variant	rs4035512
Chromosome Location	chr7:6157340-6157341
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6141805..6147526-chr7:6152442..6159269,12	MCF-7	breast:
2	chr7:6156939..6158982-chr7:6207653..6210074,2	K562	blood:

Variant related genes	Relation type
ENSG00000008256	Chromatin interaction
ENSG00000106346	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10085518	0.93[JPT][hapmap];0.89[YRI][hapmap]
rs10248850	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs10253805	0.83[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10254043	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10257461	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10265503	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10272684	0.89[CHB][hapmap];0.88[JPT][hapmap];0.87[MEX][hapmap];0.86[ASN][1000 genomes]
rs11762792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12536508	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs12667826	0.96[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2107854	0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs28844441	0.83[ASN][1000 genomes]
rs28847576	0.84[ASN][1000 genomes]
rs3793205	0.81[JPT][hapmap]
rs3793207	0.94[CHB][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap]
rs4990112	0.87[EUR][1000 genomes]
rs56916541	0.81[ASN][1000 genomes]
rs59209465	0.82[ASN][1000 genomes]
rs59527940	0.84[ASN][1000 genomes]
rs61443193	0.86[ASN][1000 genomes]
rs61634333	0.95[ASN][1000 genomes]
rs61729726	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6463528	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6463529	0.89[ASN][1000 genomes]
rs6953775	0.95[ASN][1000 genomes]
rs6961833	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6962026	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs6973832	0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6979025	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7456581	0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.82[YRI][hapmap]
rs7780867	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7788049	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7810368	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs886675	0.96[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs9886265	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
12	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4035512	MMD2	cis	cerebellum	SCAN
rs4035512	EIF2AK1	cis	cerebellum	SCAN
rs4035512	EIF2AK1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6145600-6186000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:6145600-6186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6146400-6157600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:6146400-6158800	Weak transcription	Esophagus	oesophagus
5	chr7:6146400-6159400	Weak transcription	Gastric	stomach
6	chr7:6146400-6159800	Weak transcription	Pancreas	Pancrea
7	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
8	chr7:6149200-6160000	Strong transcription	Fetal Stomach	stomach
9	chr7:6149400-6159800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:6149600-6159800	Strong transcription	Fetal Intestine Small	intestine
11	chr7:6149800-6159800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:6150400-6160200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:6150600-6157400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:6150600-6157600	Strong transcription	Primary B cells from cord blood	blood
15	chr7:6150600-6159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:6150600-6159400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:6150600-6159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:6150600-6159800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr7:6150600-6160600	Strong transcription	Primary T cells from cord blood	blood
20	chr7:6150600-6160800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:6150600-6160800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:6150600-6162000	Strong transcription	Osteobl	bone
23	chr7:6150600-6162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:6150600-6163800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:6150600-6166000	Strong transcription	HepG2	liver
26	chr7:6150600-6171400	Strong transcription	Dnd41	blood
27	chr7:6150800-6157400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr7:6150800-6157400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:6150800-6157400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:6150800-6157600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:6150800-6157600	Strong transcription	Fetal Muscle Leg	muscle
32	chr7:6150800-6158800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:6150800-6159400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:6150800-6159800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:6150800-6160000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:6150800-6160200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:6150800-6160400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:6150800-6160600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:6150800-6161800	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:6150800-6163600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:6150800-6165200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:6151000-6157400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:6151000-6160200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:6151000-6165000	Strong transcription	Placenta	Placenta
45	chr7:6151200-6162600	Strong transcription	Left Ventricle	heart
46	chr7:6151600-6157400	Strong transcription	HSMMtube	muscle
47	chr7:6151600-6159800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:6151800-6163600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:6152000-6157400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:6152000-6159600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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