Variant report

Variant	rs17195516
Chromosome Location	chr6:30580085-30580086
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30579743..30580596-chr6:30688361..30688942,2	HCT-116	colon:
2	chr6:30456489..30460489-chr6:30579571..30585514,7	K562	blood:
3	chr6:30577773..30589670-chr6:30680333..30700280,58	MCF-7	breast:
4	chr6:30579085..30581613-chr6:30852854..30854555,2	MCF-7	breast:
5	chr6:30579948..30582370-chr6:31051290..31053645,2	K562	blood:
6	chr6:30455822..30466395-chr6:30579571..30587610,27	K562	blood:
7	chr6:30577862..30587208-chr6:30682997..30696247,43	MCF-7	breast:
8	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
9	chr6:30452366..30463564-chr6:30577885..30586736,19	MCF-7	breast:
10	chr6:30537301..30541414-chr6:30578056..30586798,20	MCF-7	breast:
11	chr2:79645281..79647145-chr6:30579289..30582193,2	MCF-7	breast:
12	chr6:30511109..30514018-chr6:30576685..30580337,3	MCF-7	breast:
13	chr6:30520810..30527475-chr6:30577152..30588201,32	MCF-7	breast:
14	chr6:30577364..30581812-chr6:30612731..30615596,7	MCF-7	breast:
15	chr17:56735195..56737816-chr6:30578332..30581180,2	MCF-7	breast:
16	chr6:30576975..30585099-chr6:30622978..30628754,9	MCF-7	breast:
17	chr3:105586480..105589335-chr6:30578433..30580821,2	K562	blood:
18	chr6:30501371..30504136-chr6:30577423..30580435,3	K562	blood:
19	chr6:30430770..30433095-chr6:30579406..30582231,2	K562	blood:
20	chr6:30579749..30580249-chrX:47077688..47078588,2	Hela-S3	cervix:
21	chr6:30576582..30588788-chr6:30682721..30700088,114	K562	blood:
22	chr6:30482334..30486036-chr6:30579761..30581992,3	MCF-7	breast:
23	chr6:30517868..30527565-chr6:30576812..30587078,24	MCF-7	breast:
24	chr6:30579823..30587267-chr6:30636296..30642513,15	MCF-7	breast:
25	chr6:30578948..30585851-chr6:30707403..30713755,14	MCF-7	breast:
26	chr2:242130336..242132039-chr6:30579440..30582104,2	MCF-7	breast:
27	chr6:30511425..30515490-chr6:30579291..30582937,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236603	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000102225	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000114423	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000204574	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs16867845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189120	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195411	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17195474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17195544	0.86[AFR][1000 genomes]
rs2106069	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270172	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2302347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394387	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2394388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2394389	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3815101	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3888777	0.83[AMR][1000 genomes]
rs4148247	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57626358	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58423891	0.94[ASN][1000 genomes]
rs59272830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59607822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59913575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60081418	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60365864	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60399658	0.88[ASN][1000 genomes]
rs61733213	0.88[ASN][1000 genomes]
rs6457246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6899862	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6901251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917935	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927727	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6934466	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773711	0.88[ASN][1000 genomes]
rs9262120	1.00[ASN][1000 genomes]
rs9468812	0.88[ASN][1000 genomes]
rs9468821	0.82[ASN][1000 genomes]
rs9468822	0.82[ASN][1000 genomes]
rs9468823	0.82[ASN][1000 genomes]
rs9500865	0.82[ASN][1000 genomes]
rs9671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases
8	nsv5244	chr6:30545111-30589803	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	772 gene(s)	inside rSNPs	diseases
9	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 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	chr6:30540200-30582200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30540200-30582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
4	chr6:30566400-30581000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:30567400-30580200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:30567400-30580400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:30567600-30580400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:30568000-30580200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:30568400-30580800	Strong transcription	GM12878-XiMat	blood
10	chr6:30574600-30582200	Weak transcription	Small Intestine	intestine
11	chr6:30574600-30582400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:30576400-30581600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:30577000-30580800	Genic enhancers	Primary B cells from cord blood	blood
14	chr6:30577000-30581800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr6:30577200-30580600	Enhancers	Adipose Nuclei	Adipose
16	chr6:30577200-30580800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:30577200-30582000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr6:30577200-30582200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:30577400-30580200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:30577400-30580400	Weak transcription	Fetal Brain Male	brain
21	chr6:30577400-30580400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:30577400-30580800	Weak transcription	Spleen	Spleen
23	chr6:30577400-30581000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:30577400-30582200	Weak transcription	Esophagus	oesophagus
25	chr6:30577400-30582200	Weak transcription	Lung	lung
26	chr6:30577400-30582200	Weak transcription	HSMMtube	muscle
27	chr6:30577600-30580400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:30577600-30580600	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:30577600-30580800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:30577600-30582200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:30577600-30582200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:30577800-30580200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:30577800-30580400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:30577800-30580600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:30577800-30580600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:30577800-30581200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:30577800-30581400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr6:30578000-30580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:30578000-30580600	Weak transcription	Brain Substantia Nigra	brain
40	chr6:30578000-30580600	Weak transcription	Hela-S3	cervix
41	chr6:30578000-30581200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:30578000-30581200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:30578000-30582000	Enhancers	Brain Anterior Caudate	brain
44	chr6:30578200-30580400	Weak transcription	Liver	Liver
45	chr6:30578200-30580400	Weak transcription	HepG2	liver
46	chr6:30578200-30580600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:30578200-30582000	Enhancers	Fetal Heart	heart
48	chr6:30578200-30582000	Genic enhancers	Dnd41	blood
49	chr6:30578200-30582200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr6:30578400-30581400	Enhancers	Rectal Smooth Muscle	rectum

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