Variant report

Variant	rs6948393
Chromosome Location	chr7:101373547-101373548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101360472..101364691-chr7:101369638..101374194,4	K562	blood:
2	chr7:101369491..101371079-chr7:101371516..101374342,2	MCF-7	breast:
3	chr7:101365013..101367690-chr7:101372321..101375439,3	MCF-7	breast:
4	chr7:101371203..101374473-chr7:101456114..101459294,3	MCF-7	breast:
5	chr7:101342279..101347280-chr7:101371204..101374879,9	MCF-7	breast:
6	chr7:101366199..101374490-chr7:101455423..101462621,17	MCF-7	breast:
7	chr7:101342424..101345349-chr7:101371267..101374522,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11761218	1.00[JPT][hapmap]
rs11770669	1.00[JPT][hapmap]
rs11981335	1.00[JPT][hapmap]
rs1880345	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1965520	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449725	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60457263	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61396041	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465826	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6465827	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948235	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964718	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6964868	0.93[ASN][1000 genomes]
rs73177866	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7792422	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7796020	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7796580	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7811251	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1018544	chr7:101225639-101424889	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv539045	chr7:101225639-101424889	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv482758	chr7:101231458-101395219	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101332000-101376800	Weak transcription	Right Atrium	heart
2	chr7:101364800-101382400	Weak transcription	Thymus	Thymus
3	chr7:101369000-101373600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr7:101369600-101377400	Weak transcription	Spleen	Spleen
5	chr7:101370000-101374200	Enhancers	Fetal Intestine Large	intestine
6	chr7:101370400-101374800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:101371000-101373600	Enhancers	Fetal Intestine Small	intestine
8	chr7:101371400-101373600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:101371400-101373600	Enhancers	HSMM	muscle
10	chr7:101371600-101373800	Enhancers	Stomach Mucosa	stomach
11	chr7:101371600-101376600	Weak transcription	GM12878-XiMat	blood
12	chr7:101371600-101376800	Weak transcription	Primary B cells from cord blood	blood
13	chr7:101372200-101373600	Enhancers	Placenta	Placenta
14	chr7:101372200-101373600	Enhancers	Osteobl	bone
15	chr7:101372200-101374200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:101372400-101373600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:101372400-101376600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:101372400-101376600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:101372400-101376800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:101372600-101373600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr7:101372600-101373600	Enhancers	HSMMtube	muscle
22	chr7:101372600-101374000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:101372800-101375400	Enhancers	Hela-S3	cervix
24	chr7:101372800-101376200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:101373000-101374800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:101373000-101374800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:101373000-101376800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:101373000-101376800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:101373200-101373600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr7:101373200-101376800	Weak transcription	Lung	lung
31	chr7:101373400-101373600	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:101373400-101373600	Enhancers	K562	blood
33	chr7:101373400-101376000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:101373400-101376600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:101373400-101376800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:101373400-101376800	Weak transcription	Colonic Mucosa	Colon
37	chr7:101373400-101376800	Weak transcription	Rectal Mucosa Donor 31	rectum

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