Variant report

Variant	rs1034245
Chromosome Location	chr6:147706791-147706792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr6:147706475-147706800	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:147706516-147706817	GM12878	blood:	n/a	n/a
3	RUNX3	chr6:147706448-147706808	GM12878	blood:	n/a	n/a
4	MXI1	chr6:147706689-147706858	GM12878	blood:	n/a	n/a
5	EBF1	chr6:147706037-147706841	GM12878	blood:	n/a	n/a
6	NFIC	chr6:147706219-147706852	GM12878	blood:	n/a	n/a
7	RUNX3	chr6:147706479-147706814	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147690188..147692861-chr6:147705040..147707677,2	K562	blood:
2	chr6:147703869..147707372-chr6:147716822..147719564,3	K562	blood:
3	chr6:147704406..147707731-chr6:147708554..147712454,8	K562	blood:
4	chr6:147703628..147707069-chr6:147708418..147712454,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225135	TF binding region
ENSG00000225135	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10080610	0.86[AFR][1000 genomes]
rs10457811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs10499247	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17076671	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes]
rs17076679	0.82[AFR][1000 genomes]
rs17076689	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17076691	0.82[AFR][1000 genomes]
rs17076702	0.84[AFR][1000 genomes]
rs34181841	0.84[AFR][1000 genomes]
rs41285881	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56837006	0.84[AFR][1000 genomes]
rs58371914	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58570586	0.82[AFR][1000 genomes]
rs60225993	0.82[AFR][1000 genomes]
rs61078293	0.84[AFR][1000 genomes]
rs61120449	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6921496	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73787171	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787179	0.82[AFR][1000 genomes]
rs73788845	0.84[AMR][1000 genomes]
rs7743335	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9322096	0.82[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs9322097	0.84[AFR][1000 genomes]
rs9485155	0.84[ASW][hapmap];1.00[CHB][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes]
rs9485157	0.82[AFR][1000 genomes]
rs9485158	0.82[AFR][1000 genomes]
rs9485159	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9485160	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs9485161	0.82[AFR][1000 genomes]
rs9485163	0.82[AFR][1000 genomes]
rs9485168	0.84[AFR][1000 genomes]
rs9485169	0.84[AFR][1000 genomes]
rs9497727	0.91[YRI][hapmap]
rs9497729	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9497737	0.82[AFR][1000 genomes]
rs9497739	0.82[AFR][1000 genomes]
rs9497740	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9497742	0.82[AFR][1000 genomes]
rs9497744	0.82[AFR][1000 genomes]
rs9497745	0.84[AFR][1000 genomes]
rs9497746	0.82[AFR][1000 genomes]
rs9497747	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9497749	0.82[AFR][1000 genomes]
rs9497750	0.82[AFR][1000 genomes]
rs9497755	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs9497756	0.84[AFR][1000 genomes]
rs9497760	0.84[AFR][1000 genomes]
rs9497762	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885707	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	21 gene(s)	inside rSNPs	diseases
2	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv1016430	chr6:147662541-147711882	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv886759	chr6:147686274-147764267	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
3	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
5	chr6:147645200-147715000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:147649600-147711800	Weak transcription	Colonic Mucosa	Colon
7	chr6:147649800-147708000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:147655000-147707800	Weak transcription	Esophagus	oesophagus
9	chr6:147668200-147708000	Weak transcription	NHEK	skin
10	chr6:147679000-147707400	Weak transcription	Brain Substantia Nigra	brain
11	chr6:147680400-147707600	Weak transcription	Gastric	stomach
12	chr6:147680400-147707600	Weak transcription	Small Intestine	intestine
13	chr6:147680400-147710600	Weak transcription	Pancreas	Pancrea
14	chr6:147680400-147721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:147680600-147707600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:147680600-147707800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:147684800-147707400	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:147685600-147707600	Weak transcription	HUVEC	blood vessel
19	chr6:147685600-147714200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:147687600-147707600	Weak transcription	Lung	lung
21	chr6:147687600-147707600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:147687800-147707600	Weak transcription	Ovary	ovary
23	chr6:147687800-147708000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:147687800-147708000	Weak transcription	Thymus	Thymus
25	chr6:147687800-147724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:147688000-147710600	Weak transcription	A549	lung
27	chr6:147693200-147709600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:147694400-147709800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr6:147694800-147707200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:147694800-147711200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:147696400-147706800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr6:147696800-147706800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:147697000-147707400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:147698400-147707400	Strong transcription	K562	blood
35	chr6:147699000-147707800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:147700400-147707600	Weak transcription	Brain Anterior Caudate	brain
37	chr6:147700400-147707600	Weak transcription	Left Ventricle	heart
38	chr6:147700600-147707000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:147700600-147707600	Weak transcription	Brain Angular Gyrus	brain
40	chr6:147700600-147707600	Weak transcription	Fetal Brain Female	brain
41	chr6:147701000-147706800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:147701000-147707600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:147701200-147708400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:147701800-147706800	Strong transcription	Fetal Intestine Large	intestine
45	chr6:147702200-147707600	Weak transcription	Fetal Intestine Small	intestine
46	chr6:147702400-147707200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:147702400-147707600	Weak transcription	Fetal Lung	lung
48	chr6:147702600-147707000	Strong transcription	Primary T cells from cord blood	blood
49	chr6:147703600-147707400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:147703800-147706800	Strong transcription	Fetal Thymus	thymus

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