Variant report

Variant	rs17200747
Chromosome Location	chr6:31535826-31535827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr6:31535700-31535944	Hela-S3	cervix:	n/a	chr6:31535786-31535801
2	PML	chr6:31535221-31536014	GM12878	blood:	n/a	n/a
3	MAFF	chr6:31535658-31535920	K562	blood:	n/a	chr6:31535784-31535802
4	MAFK	chr6:31535735-31535903	H1-hESC	embryonic stem cell:	n/a	chr6:31535786-31535801
5	NFIC	chr6:31534993-31536868	GM12878	blood:	n/a	n/a
6	RELA	chr6:31535812-31536761	GM12878	blood:	n/a	chr6:31536474-31536483 chr6:31536474-31536483
7	MAFK	chr6:31535611-31535978	HepG2	liver:	n/a	chr6:31535786-31535801
8	RUNX3	chr6:31535808-31536756	GM12878	blood:	n/a	n/a
9	IKZF1	chr6:31535488-31536816	GM12878	blood:	n/a	n/a
10	MAFK	chr6:31535641-31535926	K562	blood:	n/a	chr6:31535786-31535801
11	MAFK	chr6:31535624-31535964	IMR90	lung:	n/a	chr6:31535786-31535801
12	POLR2A	chr6:31535308-31536810	GM12891	blood:	n/a	n/a
13	MTA3	chr6:31535085-31537245	GM12878	blood:	n/a	n/a
14	RUNX3	chr6:31535108-31536854	GM12878	blood:	n/a	n/a
15	CEBPB	chr6:31535136-31535888	GM12878	blood:	n/a	n/a
16	STAT5A	chr6:31535713-31536816	GM12878	blood:	n/a	n/a
17	MAFF	chr6:31535599-31535972	HepG2	liver:	n/a	chr6:31535784-31535802
18	RELA	chr6:31535200-31536731	GM12891	blood:	n/a	chr6:31536474-31536483 chr6:31536474-31536483
19	EP300	chr6:31535274-31536749	GM12878	blood:	n/a	n/a
20	MTA3	chr6:31535224-31536795	GM12878	blood:	n/a	n/a
21	MAFK	chr6:31535609-31535973	HepG2	liver:	n/a	chr6:31535786-31535801
22	RELA	chr6:31535343-31536746	GM12892	blood:	n/a	chr6:31536474-31536483 chr6:31536474-31536483
23	FOXM1	chr6:31535781-31536802	GM12878	blood:	n/a	n/a
24	NFATC1	chr6:31535231-31536837	GM12878	blood:	n/a	n/a
25	RELA	chr6:31535347-31536748	GM18951	blood:	n/a	chr6:31536474-31536483 chr6:31536474-31536483

No.	Distal block	Cell Line	Cell type
1	chr6:31509413..31513177-chr6:31535184..31538614,4	K562	blood:
2	chr6:31526758..31532788-chr6:31533564..31537563,8	K562	blood:
3	chr6:31526758..31530982-chr6:31533053..31538001,9	K562	blood:
4	chr6:31534021..31537135-chr6:31540492..31546110,5	K562	blood:

Variant related genes	Relation type
LTA	TF binding region
ENSG00000198563	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000232810	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11757236	1.00[AFR][1000 genomes]
rs56736597	1.00[EUR][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31528600-31541200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:31529000-31536600	Weak transcription	Dnd41	blood
3	chr6:31529000-31541200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:31529400-31539800	Weak transcription	Thymus	Thymus
5	chr6:31531400-31536400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:31532000-31539800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:31533000-31539200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:31533600-31536000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:31533600-31539400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr6:31533800-31539400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:31534000-31537600	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:31534000-31539400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:31534400-31539400	Enhancers	Primary B cells from cord blood	blood
14	chr6:31534600-31539200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:31534800-31536000	Enhancers	Primary T cells from cord blood	blood
16	chr6:31534800-31539400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:31534800-31539400	Enhancers	Fetal Thymus	thymus
18	chr6:31535000-31536000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr6:31535000-31536000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr6:31535000-31538000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:31535200-31536000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr6:31535200-31536200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:31535200-31536200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:31535200-31536200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:31535200-31536400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:31535200-31536400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:31535200-31536600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:31535200-31537000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr6:31535200-31537400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:31535400-31536000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:31535400-31536000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:31535400-31536000	Enhancers	K562	blood
33	chr6:31535400-31536200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:31535400-31536400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:31535400-31536400	Enhancers	Spleen	Spleen
36	chr6:31535400-31536400	Flanking Active TSS	GM12878-XiMat	blood
37	chr6:31535400-31537800	Enhancers	Primary hematopoietic stem cells	blood
38	chr6:31535600-31536000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:31535600-31536000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:31535600-31536000	Enhancers	Esophagus	oesophagus
41	chr6:31535600-31536000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:31535600-31536200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:31535600-31536200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr6:31535600-31536600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr6:31535600-31537400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr6:31535800-31536000	Bivalent Enhancer	HepG2	liver
47	chr6:31535800-31536200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:31535800-31536400	Weak transcription	Right Atrium	heart
49	chr6:31535800-31536600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:31535800-31536600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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