Variant report

Variant	rs9282875
Chromosome Location	chr6:31542266-31542267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:31542180-31542330	GM06990	blood:	n/a	n/a
2	NFATC1	chr6:31542223-31543906	GM12878	blood:	n/a	n/a
3	CTCF	chr6:31542160-31542310	GM12866	blood:	n/a	n/a
4	CTCF	chr6:31542160-31542310	MCF-7	breast:	n/a	n/a
5	CTCF	chr6:31542180-31542330	GM12867	blood:	n/a	n/a
6	CTCF	chr6:31542160-31542310	GM12870	blood:	n/a	n/a
7	CTCF	chr6:31542174-31542327	GM13976	blood:	n/a	n/a
8	CTCF	chr6:31542200-31542350	GM12871	blood:	n/a	n/a
9	CTCF	chr6:31542158-31542342	GM10266	blood:	n/a	n/a
10	CTCF	chr6:31542199-31542332	H1-hESC	embryonic stem cell:	n/a	n/a
11	RUNX3	chr6:31541999-31543942	GM12878	blood:	n/a	n/a
12	CTCF	chr6:31542200-31542350	GM12878	blood:	n/a	n/a
13	CTCF	chr6:31542180-31542330	GM12864	blood:	n/a	n/a
14	RELA	chr6:31542097-31543866	GM18951	blood:	n/a	n/a
15	CTCF	chr6:31542140-31542290	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr6:31542160-31542310	GM12869	blood:	n/a	n/a
17	CTCF	chr6:31542180-31542330	GM12873	blood:	n/a	n/a
18	RAD21	chr6:31542048-31542413	H1-hESC	embryonic stem cell:	n/a	n/a
19	RELA	chr6:31542195-31544417	GM10847	blood:	n/a	n/a
20	POLR2A	chr6:31541763-31548278	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:31541860-31543956	GM12892	blood:	n/a	n/a
22	POLR2A	chr6:31539444-31550290	GM12892	blood:	n/a	n/a
23	CTCF	chr6:31542087-31542414	GM12878	blood:	n/a	n/a
24	RELA	chr6:31541974-31545254	GM18505	blood:	n/a	n/a
25	RELA	chr6:31541542-31543778	GM12891	blood:	n/a	n/a
26	CTCF	chr6:31542156-31542333	HepG2	liver:	n/a	n/a
27	CTCF	chr6:31542171-31542339	K562	blood:	n/a	n/a
28	POLR2A	chr6:31541898-31542529	GM12891	blood:	n/a	n/a
29	POLR2A	chr6:31539494-31550471	GM12892	blood:	n/a	n/a
30	CTCF	chr6:31542142-31542403	MCF-7	breast:	n/a	n/a
31	POLR2A	chr6:31541889-31550787	GM12878	blood:	n/a	n/a
32	MTA3	chr6:31539044-31550840	GM12878	blood:	n/a	n/a
33	CTCF	chr6:31542201-31542310	HepG2	liver:	n/a	n/a
34	CTCF	chr6:31542162-31542316	GM10248	blood:	n/a	n/a
35	CTCF	chr6:31542184-31542328	GM13977	blood:	n/a	n/a
36	CTCF	chr6:31542160-31542310	GM06990	blood:	n/a	n/a
37	CTCF	chr6:31542165-31542384	GM19240	blood:	n/a	n/a
38	CTCF	chr6:31542183-31542337	MCF-7	breast:	n/a	n/a
39	CTCF	chr6:31542218-31542281	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr6:31539679-31550540	GM12892	blood:	n/a	n/a
41	ZNF143	chr6:31542181-31542316	GM12878	blood:	n/a	n/a
42	POLR2A	chr6:31541193-31547976	GM18951	blood:	n/a	n/a
43	CTCF	chr6:31542164-31542476	K562	blood:	n/a	n/a
44	RUNX3	chr6:31542072-31543876	GM12878	blood:	n/a	n/a
45	CTCF	chr6:31542201-31542339	MCF-7	breast:	n/a	n/a
46	RAD21	chr6:31542146-31542377	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr6:31542140-31542290	K562	blood:	n/a	n/a
48	POLR2A	chr6:31541959-31547643	GM18526	blood:	n/a	n/a
49	CTCF	chr6:31542260-31542410	GM12873	blood:	n/a	n/a
50	CTCF	chr6:31542171-31542351	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31507998..31511841-chr6:31541735..31545245,5	MCF-7	breast:
2	chr6:31542086..31543755-chr6:31589416..31592351,2	K562	blood:
3	chr6:31539772..31542619-chr6:31581316..31584667,3	K562	blood:
4	chr6:31537225..31540645-chr6:31540911..31542870,3	K562	blood:
5	chr6:31499682..31501227-chr6:31540656..31543059,2	K562	blood:
6	chr6:31504619..31510971-chr6:31539361..31543067,6	K562	blood:

No data

Variant related genes	Relation type
TNF	TF binding region
ENSG00000234006	Chromatin interaction
ENSG00000226979	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204472	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000200816	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs28445017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56194675	1.00[AMR][1000 genomes]
rs58368425	1.00[AMR][1000 genomes]
rs59402363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73728948	1.00[AMR][1000 genomes]
rs9461723	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469030	1.00[AMR][1000 genomes]
rs9469035	1.00[AMR][1000 genomes]
rs9469037	1.00[AMR][1000 genomes]
rs9469039	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469048	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9501148	1.00[AMR][1000 genomes]
rs9501150	1.00[AMR][1000 genomes]
rs9501151	1.00[AMR][1000 genomes]
rs9501153	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	esv2757162	chr6:31353329-31542308	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv470809	chr6:31496915-31544189	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
17	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
18	nsv462870	chr6:31528130-31544189	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
19	nsv601941	chr6:31528130-31544189	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31536000-31546200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:31536000-31548400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:31536600-31544200	Weak transcription	K562	blood
4	chr6:31537400-31542800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:31538000-31542400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:31539000-31543200	Flanking Active TSS	GM12878-XiMat	blood
7	chr6:31540200-31548000	Weak transcription	Small Intestine	intestine
8	chr6:31540400-31543000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:31540600-31542600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:31540600-31542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:31540800-31542400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr6:31540800-31542800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:31540800-31542800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:31540800-31542800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:31540800-31543000	Enhancers	Primary T cells from cord blood	blood
16	chr6:31540800-31543000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:31540800-31543200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:31540800-31543200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:31540800-31543200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:31540800-31543200	Enhancers	Fetal Thymus	thymus
21	chr6:31540800-31543200	Weak transcription	Thymus	Thymus
22	chr6:31541000-31542800	Enhancers	Primary B cells from cord blood	blood
23	chr6:31541000-31542800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr6:31541000-31542800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr6:31541000-31542800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:31541000-31543000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:31541000-31543400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:31541200-31542600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:31541200-31542600	Enhancers	HSMMtube	muscle
30	chr6:31541200-31543000	Enhancers	Spleen	Spleen
31	chr6:31541200-31543400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:31541400-31542400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr6:31541400-31543000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:31541400-31546200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:31541600-31543000	Enhancers	Primary B cells from peripheral blood	blood
36	chr6:31541800-31542400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:31541800-31543000	Weak transcription	Right Atrium	heart
38	chr6:31542000-31542800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:31542000-31543200	Enhancers	Primary hematopoietic stem cells	blood
40	chr6:31542200-31542800	Enhancers	Dnd41	blood
41	chr6:31542200-31543000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr6:31542200-31543000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr6:31542200-31543200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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