Variant report

Variant	rs705829
Chromosome Location	chr6:161426581-161426582
allele	C/T
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	chr6:161425971..161428615-chr6:161431158..161434140,4	K562	blood:
2	chr6:161422502..161428879-chr6:161429746..161435781,7	K562	blood:
3	chr6:161426027..161428783-chr6:161467805..161470690,2	K562	blood:
4	chr6:161423600..161427272-chr6:161490339..161493593,3	K562	blood:
5	chr6:161426568..161429314-chr6:161439538..161442879,3	K562	blood:
6	chr6:161411313..161414494-chr6:161426027..161429322,4	MCF-7	breast:
7	chr6:161426329..161428066-chr6:161624454..161626493,2	K562	blood:
8	chr6:161416864..161418683-chr6:161425882..161428622,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1001809	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11754459	1.00[JPT][hapmap]
rs11963931	1.00[JPT][hapmap]
rs13194157	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464779	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1464780	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1543261	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1562026	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1982291	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2275925	1.00[JPT][hapmap]
rs2275926	1.00[JPT][hapmap]
rs2872613	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4472323	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4559074	1.00[ASN][1000 genomes]
rs4708898	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4709486	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709489	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709490	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709491	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4709493	1.00[ASN][1000 genomes]
rs4709495	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs4709496	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs587501	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615269	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619393	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628430	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455701	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645718	1.00[ASN][1000 genomes]
rs655605	0.86[EUR][1000 genomes]
rs657551	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662541	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs668638	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683549	1.00[ASN][1000 genomes]
rs6900500	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs6902332	1.00[ASN][1000 genomes]
rs6902760	1.00[ASN][1000 genomes]
rs6905942	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6908283	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6913706	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914092	1.00[JPT][hapmap]
rs6918476	1.00[ASN][1000 genomes]
rs6919831	1.00[ASN][1000 genomes]
rs6923835	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs6925502	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925800	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6929462	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933810	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738762	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7753585	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7760056	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346846	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9355330	0.90[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355332	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9355867	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9355872	1.00[ASN][1000 genomes]
rs9355873	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9364585	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9364586	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9365248	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9458126	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161413800-161432000	Weak transcription	Aorta	Aorta
2	chr6:161413800-161433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:161414000-161430800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:161414000-161432000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:161414200-161431600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:161414200-161431600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:161414200-161458200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:161414400-161469600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:161414600-161432800	Weak transcription	Fetal Stomach	stomach
10	chr6:161414600-161442600	Weak transcription	Primary B cells from cord blood	blood
11	chr6:161414600-161457400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:161415600-161427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:161415600-161450000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr6:161416600-161475200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:161416800-161436200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:161417400-161449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:161417600-161430200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr6:161417800-161433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr6:161418000-161432000	Weak transcription	Small Intestine	intestine
20	chr6:161418000-161432800	Weak transcription	Esophagus	oesophagus
21	chr6:161418000-161432800	Weak transcription	Right Atrium	heart
22	chr6:161418000-161434800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:161418000-161448800	Weak transcription	Lung	lung
24	chr6:161418400-161430800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:161418800-161432400	Weak transcription	Ovary	ovary
26	chr6:161419000-161427600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:161420000-161434800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:161420800-161431800	Weak transcription	Fetal Lung	lung
29	chr6:161422800-161428000	Weak transcription	Left Ventricle	heart
30	chr6:161422800-161428000	Weak transcription	Psoas Muscle	Psoas
31	chr6:161422800-161428400	Weak transcription	GM12878-XiMat	blood
32	chr6:161422800-161431200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:161422800-161431200	Weak transcription	HMEC	breast
34	chr6:161422800-161432000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:161422800-161433600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:161422800-161434600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:161422800-161441000	Weak transcription	K562	blood
38	chr6:161423000-161428200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:161423000-161429600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:161423000-161431200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:161423000-161431200	Weak transcription	HSMM	muscle
42	chr6:161423000-161431800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:161423000-161431800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:161423000-161431800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:161423000-161431800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:161423000-161443000	Weak transcription	HepG2	liver
47	chr6:161423200-161430600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:161423200-161433600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr6:161423200-161436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:161423400-161432000	Weak transcription	Fetal Heart	heart

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