Variant report

Variant	rs6955398
Chromosome Location	chr7:16462243-16462244
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:16461467-16462279	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:16461914-16463016	K562	blood:	n/a	chr7:16462172-16462188
3	NR2F2	chr7:16462240-16462950	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16460189..16463814-chr7:16683756..16686111,3	MCF-7	breast:
2	chr7:16460318..16462710-chr7:16792580..16794734,3	K562	blood:
3	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
4	chr7:16307891..16309646-chr7:16460887..16462647,2	K562	blood:
5	chr7:16161067..16163627-chr7:16461364..16462917,2	K562	blood:
6	chr7:16300347..16301994-chr7:16462021..16464400,2	K562	blood:
7	chr7:16309917..16312167-chr7:16461370..16463570,2	K562	blood:
8	chr7:16242935..16245142-chr7:16460996..16462500,2	MCF-7	breast:

No data

Variant related genes	Relation type
ISPD	TF binding region
ENSG00000136261	Chromatin interaction
ENSG00000106524	Chromatin interaction
ENSG00000229688	Chromatin interaction
ENSG00000106537	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10240752	0.81[CEU][hapmap]
rs10257504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10272029	0.81[CEU][hapmap]
rs10464287	0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10950619	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11976934	0.88[EUR][1000 genomes]
rs17617900	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17680292	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28512480	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56206818	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56223703	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56335840	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60989361	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6461255	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66743577	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6947550	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6948660	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6949112	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6949292	0.81[CEU][hapmap]
rs6958802	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7457079	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7782939	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9655136	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9691296	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16461400-16462400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:16461400-16462400	Weak transcription	Left Ventricle	heart
3	chr7:16461400-16462800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:16461400-16463000	Enhancers	Stomach Mucosa	stomach
5	chr7:16461400-16469000	Weak transcription	Aorta	Aorta
6	chr7:16461600-16462400	Enhancers	Duodenum Mucosa	Duodenum
7	chr7:16461600-16462600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr7:16461600-16462600	Enhancers	Liver	Liver
9	chr7:16461600-16462600	Enhancers	Fetal Intestine Small	intestine
10	chr7:16461600-16462600	Weak transcription	Psoas Muscle	Psoas
11	chr7:16461600-16462600	Enhancers	Right Atrium	heart
12	chr7:16461600-16462800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:16461600-16462800	Enhancers	Fetal Intestine Large	intestine
14	chr7:16461600-16463000	Enhancers	Placenta	Placenta
15	chr7:16461600-16469600	Weak transcription	Gastric	stomach
16	chr7:16461600-16478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:16461800-16462600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:16461800-16462800	Enhancers	Brain Anterior Caudate	brain
19	chr7:16461800-16462800	Enhancers	Colon Smooth Muscle	Colon
20	chr7:16461800-16462800	Enhancers	Rectal Smooth Muscle	rectum
21	chr7:16461800-16465200	Weak transcription	Right Ventricle	heart
22	chr7:16462000-16462600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:16462000-16462600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:16462000-16462600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:16462000-16462600	Enhancers	HepG2	liver
26	chr7:16462000-16462800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:16462000-16462800	Enhancers	Stomach Smooth Muscle	stomach
28	chr7:16462000-16468000	Weak transcription	NH-A	brain
29	chr7:16462200-16462400	Enhancers	K562	blood
30	chr7:16462200-16462800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:16462200-16463800	Weak transcription	Fetal Lung	lung
32	chr7:16462200-16468000	Weak transcription	NHDF-Ad	bronchial
33	chr7:16462200-16468600	Weak transcription	NHLF	lung
34	chr7:16462200-16473200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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