Variant report

Variant	rs2509217
Chromosome Location	chr6:31566204-31566205
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31557562..31560415-chr6:31563588..31566360,2	K562	blood:
2	chr6:31511774..31515264-chr6:31563314..31566638,3	K562	blood:
3	chr6:31547854..31549220-chr6:31566084..31566993,5	MCF-7	breast:
4	chr6:31513985..31515470-chr6:31565886..31567941,26	K562	blood:
5	chr6:31546371..31548675-chr6:31564943..31568111,3	MCF-7	breast:
6	chr6:31548213..31551482-chr6:31564598..31567981,3	K562	blood:
7	chr6:31517592..31522537-chr6:31564964..31567939,4	MCF-7	breast:
8	chr6:31549408..31552912-chr6:31565024..31568241,3	K562	blood:
9	chr6:31519028..31519735-chr6:31566077..31566659,3	MCF-7	breast:
10	chr6:31565525..31567997-chr6:31568143..31571719,3	K562	blood:
11	chr6:31518769..31519842-chr6:31566031..31567026,10	K562	blood:
12	chr6:31513542..31516074-chr6:31565091..31568349,3	MCF-7	breast:
13	chr6:31508128..31511656-chr6:31563517..31568098,6	K562	blood:
14	chr6:31527419..31530121-chr6:31566009..31569893,3	K562	blood:
15	chr6:31461211..31462110-chr6:31566059..31566733,2	MCF-7	breast:
16	chr6:31565525..31567997-chr6:31568143..31570425,2	K562	blood:
17	chr6:31518175..31519881-chr6:31566042..31567461,7	MCF-7	breast:
18	chr6:31513067..31517986-chr6:31563374..31568109,9	K562	blood:
19	chr6:31514346..31515073-chr6:31566075..31566930,2	MCF-7	breast:
20	chr6:31459629..31460383-chr6:31566089..31567042,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234006	Chromatin interaction
ENSG00000213760	Chromatin interaction
ENSG00000227507	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204498	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11751074	1.00[AMR][1000 genomes]
rs11752976	1.00[AMR][1000 genomes]
rs11753901	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13192469	1.00[AMR][1000 genomes]
rs13215091	1.00[AMR][1000 genomes]
rs2515920	1.00[ASN][1000 genomes]
rs3087617	0.80[ASN][1000 genomes]
rs3219180	0.91[AMR][1000 genomes]
rs3219182	1.00[AMR][1000 genomes]
rs3219183	1.00[AMR][1000 genomes]
rs34744948	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35266973	0.86[ASN][1000 genomes]
rs35597084	1.00[AMR][1000 genomes]
rs66562149	1.00[AMR][1000 genomes]
rs67000433	0.90[AMR][1000 genomes]
rs67104621	1.00[AMR][1000 genomes]
rs67872983	1.00[AMR][1000 genomes]
rs71563353	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72847257	1.00[AMR][1000 genomes]
rs72847262	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72847263	1.00[AFR][1000 genomes]
rs72847264	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72850135	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
4	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
5	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
6	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	378 gene(s)	inside rSNPs	diseases
8	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
9	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
10	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
12	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
13	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
14	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
15	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31550000-31583200	Weak transcription	Right Atrium	heart
2	chr6:31560800-31568200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:31561000-31566800	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:31561000-31566800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:31561000-31568400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:31561200-31566800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr6:31561200-31566800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:31561600-31566800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr6:31563600-31566400	Enhancers	Primary T cells from cord blood	blood
10	chr6:31563600-31566800	Enhancers	Fetal Thymus	thymus
11	chr6:31563800-31566600	Enhancers	Primary B cells from cord blood	blood
12	chr6:31563800-31567000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:31564400-31566400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:31564400-31566600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:31564800-31566800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:31565000-31566600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:31565600-31566800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:31565800-31566400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:31565800-31566600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:31565800-31566800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr6:31565800-31566800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:31566000-31566400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr6:31566000-31566400	Enhancers	Pancreas	Pancrea
24	chr6:31566000-31566600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:31566000-31566600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:31566000-31566600	Enhancers	Liver	Liver
27	chr6:31566000-31566600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr6:31566000-31566600	Enhancers	Thymus	Thymus
29	chr6:31566000-31566600	Enhancers	GM12878-XiMat	blood
30	chr6:31566000-31566800	Enhancers	Dnd41	blood
31	chr6:31566000-31566800	Enhancers	Hela-S3	cervix
32	chr6:31566000-31566800	Flanking Active TSS	HepG2	liver
33	chr6:31566000-31566800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:31566200-31566400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:31566200-31566400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:31566200-31566400	Enhancers	Spleen	Spleen
37	chr6:31566200-31566600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:31566200-31566600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:31566200-31566600	Enhancers	Duodenum Mucosa	Duodenum
40	chr6:31566200-31566600	Enhancers	Fetal Muscle Trunk	muscle
41	chr6:31566200-31566600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:31566200-31566600	Enhancers	HUVEC	blood vessel

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