Variant report

Variant	rs9458088
Chromosome Location	chr6:161431888-161431889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161425971..161428615-chr6:161431158..161434140,4	K562	blood:
2	chr6:161429995..161433253-chr6:161449573..161453041,3	MCF-7	breast:
3	chr6:161411663..161414385-chr6:161429891..161432608,3	K562	blood:
4	chr6:161412828..161414850-chr6:161429891..161432608,3	K562	blood:
5	chr6:161417175..161419433-chr6:161431394..161434552,3	K562	blood:
6	chr6:161422502..161428879-chr6:161429746..161435781,7	K562	blood:

Variant related genes	Relation type
ENSG00000272841	Chromatin interaction
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10080366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11966001	1.00[EUR][1000 genomes]
rs12181932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12333168	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13437252	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16892148	1.00[AMR][1000 genomes]
rs16892155	1.00[AMR][1000 genomes]
rs16892160	1.00[AMR][1000 genomes]
rs16892171	1.00[AMR][1000 genomes]
rs1822519	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28493041	0.83[EUR][1000 genomes]
rs28542460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58963158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6455705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6901507	1.00[EUR][1000 genomes]
rs6922585	1.00[EUR][1000 genomes]
rs6928749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6930167	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6934713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6935472	1.00[EUR][1000 genomes]
rs6935813	1.00[EUR][1000 genomes]
rs6936925	1.00[EUR][1000 genomes]
rs6937754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73015405	1.00[EUR][1000 genomes]
rs73015418	0.83[EUR][1000 genomes]
rs73015443	0.83[EUR][1000 genomes]
rs73015456	0.83[EUR][1000 genomes]
rs73022077	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022082	1.00[EUR][1000 genomes]
rs73022084	0.86[EUR][1000 genomes]
rs73022090	1.00[EUR][1000 genomes]
rs73022096	1.00[EUR][1000 genomes]
rs73023854	0.83[EUR][1000 genomes]
rs73023856	0.83[EUR][1000 genomes]
rs73023871	1.00[EUR][1000 genomes]
rs73024033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73024041	1.00[EUR][1000 genomes]
rs73024080	1.00[EUR][1000 genomes]
rs73026055	1.00[EUR][1000 genomes]
rs73026079	1.00[EUR][1000 genomes]
rs7356842	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7356869	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7754196	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7754687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762953	1.00[EUR][1000 genomes]
rs7767689	1.00[AMR][1000 genomes]
rs7767849	1.00[AMR][1000 genomes]
rs7775116	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7775538	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9295133	1.00[EUR][1000 genomes]
rs9295135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9456606	1.00[EUR][1000 genomes]
rs9456608	1.00[EUR][1000 genomes]
rs9456609	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9456610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9456611	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9456612	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9456613	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9456614	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9456615	1.00[EUR][1000 genomes]
rs9456616	1.00[EUR][1000 genomes]
rs9456618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9456621	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9456622	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9456624	1.00[EUR][1000 genomes]
rs9456625	1.00[EUR][1000 genomes]
rs9456626	1.00[EUR][1000 genomes]
rs9456627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9456628	1.00[EUR][1000 genomes]
rs9456630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9456635	1.00[YRI][hapmap]
rs9456640	0.83[EUR][1000 genomes]
rs9458074	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9458075	1.00[EUR][1000 genomes]
rs9458076	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458077	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458079	1.00[CEU][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458080	1.00[CEU][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458081	1.00[CEU][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458082	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458083	1.00[CEU][hapmap]
rs9458084	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458089	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9458090	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458091	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458092	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458095	1.00[EUR][1000 genomes]
rs9458096	1.00[EUR][1000 genomes]
rs9458097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458101	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458103	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458104	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458111	0.86[EUR][1000 genomes]
rs9458112	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9458113	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9458115	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458116	1.00[EUR][1000 genomes]
rs9458118	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9458119	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9458120	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9458123	1.00[EUR][1000 genomes]
rs9458124	1.00[EUR][1000 genomes]
rs9458125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9986548	1.00[AMR][1000 genomes];1.00[EUR][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:85 , 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	chr6:161414000-161432000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:161414200-161458200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:161414400-161469600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:161414600-161432800	Weak transcription	Fetal Stomach	stomach
7	chr6:161414600-161442600	Weak transcription	Primary B cells from cord blood	blood
8	chr6:161414600-161457400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:161415600-161450000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:161416600-161475200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:161416800-161436200	Weak transcription	Fetal Intestine Small	intestine
12	chr6:161417400-161449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:161417800-161433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:161418000-161432000	Weak transcription	Small Intestine	intestine
15	chr6:161418000-161432800	Weak transcription	Esophagus	oesophagus
16	chr6:161418000-161432800	Weak transcription	Right Atrium	heart
17	chr6:161418000-161434800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:161418000-161448800	Weak transcription	Lung	lung
19	chr6:161418800-161432400	Weak transcription	Ovary	ovary
20	chr6:161420000-161434800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:161422800-161432000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:161422800-161433600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:161422800-161434600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:161422800-161441000	Weak transcription	K562	blood
25	chr6:161423000-161443000	Weak transcription	HepG2	liver
26	chr6:161423200-161433600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:161423200-161436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:161423400-161432000	Weak transcription	Fetal Heart	heart
29	chr6:161428400-161432000	Weak transcription	Psoas Muscle	Psoas
30	chr6:161428400-161432800	Weak transcription	Left Ventricle	heart
31	chr6:161428600-161432000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:161428600-161432000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:161428600-161432000	Weak transcription	Right Ventricle	heart
34	chr6:161428600-161455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:161430600-161432000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr6:161430600-161432200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:161430800-161433000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr6:161430800-161435200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:161431000-161432200	Enhancers	NHEK	skin
40	chr6:161431000-161432600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:161431000-161432800	Weak transcription	Pancreas	Pancrea
42	chr6:161431000-161433800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:161431000-161442400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr6:161431200-161432200	Enhancers	HMEC	breast
45	chr6:161431200-161433800	Enhancers	NH-A	brain
46	chr6:161431200-161433800	Enhancers	NHDF-Ad	bronchial
47	chr6:161431200-161434200	Enhancers	Osteobl	bone
48	chr6:161431200-161434400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:161431200-161434800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:161431200-161435000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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