Variant report

Variant	rs209137
Chromosome Location	chr6:28865713-28865714
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28830882..28836292-chr6:28860588..28866545,10	MCF-7	breast:
2	chr6:28803400..28808440-chr6:28861740..28869149,12	K562	blood:
3	chr6:28828478..28839935-chr6:28855092..28866386,31	K562	blood:
4	chr6:28861427..28866893-chr6:28947878..28954176,14	K562	blood:
5	chr6:28859278..28869415-chr6:28906395..28912460,18	K562	blood:
6	chr6:28861427..28869364-chr6:28946251..28954176,23	K562	blood:
7	chr6:28861677..28871493-chr6:28888734..28892704,20	MCF-7	breast:
8	chr6:28823126..28835109-chr6:28859268..28867076,23	K562	blood:
9	chr6:28864161..28868397-chr6:28882536..28888078,6	MCF-7	breast:
10	chr6:28864176..28867304-chr6:28972657..28975728,3	K562	blood:
11	chr6:28861810..28871966-chr6:28889574..28894668,20	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225173	Chromatin interaction
ENSG00000197935	Chromatin interaction
ENSG00000227214	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000213916	Chromatin interaction
ENSG00000212240	Chromatin interaction
ENSG00000204709	Chromatin interaction
ENSG00000225595	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1002925	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1005123	0.81[ASN][1000 genomes]
rs1233602	0.81[EUR][1000 genomes]
rs1237485	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1476016	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs169683	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1794587	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs184093	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2013848	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2032500	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071785	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2071790	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs209122	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs209126	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs209128	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs209129	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs209138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs209148	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs209149	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs209152	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs209153	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs209160	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs209161	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs209163	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs209164	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs209169	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs209171	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs209173	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs209175	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs209176	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs209179	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs209182	0.84[EUR][1000 genomes]
rs209184	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs209186	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2157312	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2157313	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2187807	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2187808	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2208536	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2269555	0.82[ASN][1000 genomes]
rs2754764	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2754767	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2765218	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2765219	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2765229	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3129792	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3129793	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3130841	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3130842	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3130886	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130889	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130897	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3131070	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3131074	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3131077	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3131099	0.83[AMR][1000 genomes]
rs3131100	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3131102	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3131342	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3132371	0.87[EUR][1000 genomes]
rs3132386	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3135303	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3135315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3135319	0.82[EUR][1000 genomes]
rs3135321	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3135322	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3135323	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3135324	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3135326	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3135327	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3135328	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs377392	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs381808	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs386628	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs393431	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4427026	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4713186	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4713187	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4713188	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4713190	0.84[ASN][1000 genomes]
rs4713192	0.84[ASN][1000 genomes]
rs4947339	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs526983	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6456857	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6456876	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6456880	0.83[ASN][1000 genomes]
rs6456883	0.82[ASN][1000 genomes]
rs6901599	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6904975	0.82[ASN][1000 genomes]
rs6906909	0.82[ASN][1000 genomes]
rs6914955	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6916161	0.82[ASN][1000 genomes]
rs6920392	0.84[ASN][1000 genomes]
rs6931823	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs763009	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7743189	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7755875	0.87[ASN][1000 genomes]
rs7761547	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9257401	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9257404	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9257405	0.87[ASN][1000 genomes]
rs9257421	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9257447	0.83[ASN][1000 genomes]
rs9257449	0.83[ASN][1000 genomes]
rs9257455	0.80[ASN][1000 genomes]
rs9257461	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
3	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv601212	chr6:28833225-28893927	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv462667	chr6:28834646-28893927	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv830622	chr6:28861667-29015804	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28862800-28866000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:28862800-28866200	Active TSS	Fetal Stomach	stomach
3	chr6:28862800-28866200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr6:28862800-28866400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:28862800-28866400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:28862800-28866400	Active TSS	Fetal Lung	lung
7	chr6:28863000-28865800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:28863000-28865800	Active TSS	Fetal Muscle Trunk	muscle
9	chr6:28863000-28865800	Active TSS	HMEC	breast
10	chr6:28863000-28866000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:28863000-28866000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:28863000-28866000	Active TSS	Liver	Liver
13	chr6:28863000-28866000	Active TSS	Brain Hippocampus Middle	brain
14	chr6:28863000-28866000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:28863000-28866000	Active TSS	Fetal Thymus	thymus
16	chr6:28863000-28866000	Active TSS	Right Ventricle	heart
17	chr6:28863000-28866200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr6:28863000-28866200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:28863000-28866200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr6:28863000-28866200	Active TSS	Fetal Intestine Small	intestine
21	chr6:28863000-28866200	Active TSS	Fetal Muscle Leg	muscle
22	chr6:28863000-28866200	Active TSS	Placenta	Placenta
23	chr6:28863000-28866200	Active TSS	Left Ventricle	heart
24	chr6:28863000-28866200	Active TSS	Ovary	ovary
25	chr6:28863000-28866200	Active TSS	NHLF	lung
26	chr6:28863000-28866400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr6:28863000-28866400	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr6:28863000-28866400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:28863000-28866400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:28863000-28866400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:28863000-28866400	Active TSS	Stomach Smooth Muscle	stomach
32	chr6:28863000-28866400	Active TSS	A549	lung
33	chr6:28863000-28866400	Active TSS	NHDF-Ad	bronchial
34	chr6:28863000-28866600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr6:28863000-28867200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:28863200-28865800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:28863200-28866200	Active TSS	Fetal Kidney	kidney
38	chr6:28863200-28866200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr6:28863200-28866400	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr6:28863200-28866400	Active TSS	K562	blood
41	chr6:28863400-28865800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:28863400-28866400	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr6:28864400-28865800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr6:28864400-28866000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr6:28864600-28865800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr6:28864600-28866400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr6:28864800-28865800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr6:28864800-28865800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr6:28864800-28866000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:28864800-28866200	Active TSS	Right Atrium	heart

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