Variant report

Variant	rs4410798
Chromosome Location	chr7:12756756-12756757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:12725982..12739416-chr7:12748956..12757396,41	K562	blood:
2	chr7:12755311..12757060-chr7:14029862..14032412,2	K562	blood:
3	chr7:12752442..12758611-chr7:12777091..12782449,9	K562	blood:
4	chr7:12753064..12757665-chr7:12839772..12843667,5	K562	blood:
5	chr7:12755272..12756942-chr7:13055576..13058177,2	K562	blood:
6	chr7:12558451..12560515-chr7:12754100..12757020,2	K562	blood:
7	chr7:12755040..12757208-chr7:13001272..13003633,2	K562	blood:
8	chr7:12755378..12757741-chr7:14022660..14025272,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction
ENSG00000006468	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10278922	0.83[CEU][hapmap]
rs10488229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10950412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981235	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546770	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4719328	0.83[MKK][hapmap]
rs62449844	0.93[AFR][1000 genomes]
rs6949140	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6967467	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785696	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801894	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv887641	chr7:12747443-12782062	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4410798	VWDE	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12752800-12756800	Enhancers	Fetal Intestine Large	intestine
2	chr7:12753600-12757000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:12754600-12756800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:12754800-12756800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:12754800-12756800	Enhancers	Small Intestine	intestine
6	chr7:12754800-12760400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:12755000-12756800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:12755000-12756800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:12755200-12756800	Enhancers	Placenta	Placenta
10	chr7:12755200-12756800	Enhancers	Right Ventricle	heart
11	chr7:12755400-12756800	Enhancers	Fetal Intestine Small	intestine
12	chr7:12755400-12756800	Enhancers	Left Ventricle	heart
13	chr7:12755400-12757000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:12755400-12757000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:12755400-12757200	Enhancers	Right Atrium	heart
16	chr7:12755400-12758400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:12755400-12758600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:12755400-12761800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:12755600-12756800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:12755600-12756800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:12755600-12756800	Enhancers	Fetal Muscle Leg	muscle
22	chr7:12755600-12756800	Enhancers	Spleen	Spleen
23	chr7:12755600-12757000	Enhancers	Brain Germinal Matrix	brain
24	chr7:12755600-12758400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:12755600-12758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:12755600-12758400	Weak transcription	Fetal Lung	lung
27	chr7:12755600-12761800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:12755800-12756800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:12755800-12756800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:12755800-12756800	Enhancers	Brain Anterior Caudate	brain
31	chr7:12755800-12757000	Enhancers	Adipose Nuclei	Adipose
32	chr7:12755800-12757000	Enhancers	Hela-S3	cervix
33	chr7:12755800-12757000	Enhancers	HMEC	breast
34	chr7:12755800-12757200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:12755800-12757200	Enhancers	HSMM	muscle
36	chr7:12755800-12757200	Enhancers	HUVEC	blood vessel
37	chr7:12755800-12758200	Weak transcription	NHEK	skin
38	chr7:12755800-12758400	Weak transcription	NHLF	lung
39	chr7:12755800-12758600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:12755800-12759600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr7:12755800-12763000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:12756000-12756800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:12756000-12756800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:12756000-12756800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr7:12756000-12757000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:12756000-12757200	Flanking Active TSS	K562	blood
47	chr7:12756000-12758400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:12756000-12759000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:12756200-12756800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:12756200-12756800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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