Variant report

Variant	rs56662332
Chromosome Location	chr6:31705606-31705607
allele	A/G
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	POLR2A	chr6:31703182-31707401	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:31705158-31706302	HUVEC	blood vessel:	n/a	n/a
3	EP300	chr6:31705310-31706475	K562	blood:	n/a	n/a
4	POLR2A	chr6:31705591-31706788	GM12892	blood:	n/a	n/a
5	HNF4G	chr6:31705220-31705696	HepG2	liver:	n/a	chr6:31705396-31705408 chr6:31705395-31705408 chr6:31705393-31705411 chr6:31705395-31705409 chr6:31705396-31705409 chr6:31705395-31705409 chr6:31705396-31705408 chr6:31705391-31705413 chr6:31705397-31705405 chr6:31705396-31705408 chr6:31705395-31705409
6	PML	chr6:31705139-31706742	GM12878	blood:	n/a	chr6:31706163-31706171 chr6:31706475-31706483
7	RCOR1	chr6:31705601-31706097	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:31705275-31708451	K562	blood:	n/a	n/a
9	POLR2A	chr6:31705210-31706796	HepG2	liver:	n/a	n/a
10	EP300	chr6:31705155-31708063	HepG2	liver:	n/a	chr6:31707141-31707149
11	ZNF384	chr6:31705221-31706218	K562	blood:	n/a	n/a
12	CEBPZ	chr6:31705275-31706145	HepG2	liver:	n/a	n/a
13	HEY1	chr6:31700825-31708048	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:31705291-31706175	GM15510	blood:	n/a	n/a
15	POLR2A	chr6:31705557-31706305	U87	brain:	n/a	n/a
16	MAFK	chr6:31705362-31706747	K562	blood:	n/a	n/a
17	FOXA1	chr6:31705175-31708069	HepG2	liver:	n/a	chr6:31706270-31706285
18	ZMIZ1	chr6:31705309-31708339	K562	blood:	n/a	n/a
19	MBD4	chr6:31705115-31708186	HepG2	liver:	n/a	n/a
20	HCFC1	chr6:31705355-31706545	K562	blood:	n/a	n/a
21	PML	chr6:31705162-31706795	K562	blood:	n/a	chr6:31706163-31706171 chr6:31706475-31706483
22	TEAD4	chr6:31705115-31708474	K562	blood:	n/a	n/a
23	MAZ	chr6:31705267-31708428	K562	blood:	n/a	chr6:31705423-31705432 chr6:31707734-31707744
24	SPI1	chr6:31705511-31706217	GM12878	blood:	n/a	chr6:31705909-31705916 chr6:31705908-31705917
25	POLR2A	chr6:31705241-31706750	K562	blood:	n/a	n/a
26	POLR2A	chr6:31701223-31706870	HepG2	liver:	n/a	n/a
27	TAF1	chr6:31705223-31706803	K562	blood:	n/a	n/a
28	SP1	chr6:31705167-31708177	A549	lung:	n/a	chr6:31706876-31706885 chr6:31707734-31707744 chr6:31707734-31707743 chr6:31707730-31707744 chr6:31707735-31707744 chr6:31706098-31706107 chr6:31707733-31707745 chr6:31705835-31705848 chr6:31705486-31705496 chr6:31707580-31707594 chr6:31707609-31707618 chr6:31705486-31705495 chr6:31706875-31706885 chr6:31707733-31707745 chr6:31707628-31707649 chr6:31706755-31706769 chr6:31708099-31708109
29	JUND	chr6:31705274-31708376	K562	blood:	n/a	chr6:31707528-31707537 chr6:31707631-31707640
30	POLR2A	chr6:31705257-31708486	GM18951	blood:	n/a	n/a
31	MTA3	chr6:31705110-31708604	GM12878	blood:	n/a	n/a
32	HDAC2	chr6:31705218-31706191	HepG2	liver:	n/a	chr6:31705233-31705247
33	POLR2A	chr6:31705219-31708528	K562	blood:	n/a	n/a
34	POLR2A	chr6:31705119-31708627	GM12892	blood:	n/a	n/a
35	CHD2	chr6:31705545-31708301	K562	blood:	n/a	n/a
36	TEAD4	chr6:31705221-31708451	K562	blood:	n/a	n/a
37	HEY1	chr6:31705200-31706786	K562	blood:	n/a	n/a
38	TEAD4	chr6:31705101-31708149	HepG2	liver:	n/a	n/a
39	IRF3	chr6:31705598-31705783	GM12878	blood:	n/a	n/a
40	CTCF	chr6:31705500-31706790	SK-N-SH	brain:	n/a	chr6:31706346-31706359 chr6:31706339-31706360 chr6:31706344-31706362
41	POLR2A	chr6:31705161-31709134	HL-60	blood:	n/a	n/a
42	POLR2A	chr6:31705185-31706799	HepG2	liver:	n/a	n/a
43	MAZ	chr6:31705383-31706376	IMR90	lung:	n/a	chr6:31705423-31705432
44	ATF1	chr6:31705282-31706773	K562	blood:	n/a	n/a
45	HNF4A	chr6:31705216-31705752	HepG2	liver:	n/a	chr6:31705396-31705408 chr6:31705395-31705408 chr6:31705393-31705411 chr6:31705395-31705409 chr6:31705396-31705409 chr6:31705395-31705409 chr6:31705396-31705408 chr6:31705394-31705409 chr6:31705391-31705413 chr6:31705397-31705405 chr6:31705396-31705408 chr6:31705395-31705409
46	REST	chr6:31705125-31706228	HepG2	liver:	n/a	n/a
47	EP300	chr6:31705498-31706750	GM12878	blood:	n/a	n/a
48	HEY1	chr6:31705165-31706813	HepG2	liver:	n/a	n/a
49	RCOR1	chr6:31705267-31708386	K562	blood:	n/a	n/a
50	MYBL2	chr6:31705126-31708371	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31673061..31674649-chr6:31705236..31707365,2	MCF-7	breast:
2	chr6:31630138..31633537-chr6:31702184..31707226,4	MCF-7	breast:
3	chr6:31647222..31652409-chr6:31701244..31706736,11	MCF-7	breast:
4	chr6:31704202..31707346-chr6:32935794..32939096,3	K562	blood:
5	chr6:31637076..31639095-chr6:31704178..31706177,2	MCF-7	breast:
6	chr6:31704043..31706840-chr6:31719670..31721434,2	MCF-7	breast:
7	chr6:31680344..31682010-chr6:31704072..31705606,2	MCF-7	breast:
8	chr6:31510116..31512657-chr6:31703324..31705930,3	K562	blood:
9	chr6:31632734..31637057-chr6:31703384..31706202,6	MCF-7	breast:
10	chr6:31646441..31651407-chr6:31704606..31708985,8	MCF-7	breast:
11	chr6:31668441..31672326-chr6:31702683..31707609,7	MCF-7	breast:
12	chr6:31702549..31706090-chr6:31802474..31805993,4	MCF-7	breast:
13	chr6:31656167..31662607-chr6:31701760..31709122,7	MCF-7	breast:
14	chr6:31703656..31706945-chr6:31827756..31831598,5	MCF-7	breast:
15	chr6:31705330..31707246-chr6:31857378..31858935,2	K562	blood:
16	chr6:31704899..31707815-chr6:31914437..31917102,2	MCF-7	breast:
17	chr6:31705460..31708202-chr6:31937853..31939865,2	K562	blood:
18	chr6:31587220..31590773-chr6:31700977..31706290,6	MCF-7	breast:
19	chr6:31508752..31512657-chr6:31701865..31705930,6	K562	blood:

Variant related genes	Relation type
CLIC1	TF binding region
MSH5	TF binding region
MSH5-SAPCD1	TF binding region
ENSG00000204256	Chromatin interaction
ENSG00000240053	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000201207	Chromatin interaction
ENSG00000204422	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000204424	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000255552	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000243649	Chromatin interaction
ENSG00000266776	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000204344	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000204428	Chromatin interaction
ENSG00000201754	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11964779	0.94[AFR][1000 genomes]
rs11966331	0.83[AFR][1000 genomes]
rs11967206	0.83[AFR][1000 genomes]
rs28399971	0.88[AFR][1000 genomes]
rs4713482	0.94[AFR][1000 genomes]
rs4947252	0.90[AFR][1000 genomes]
rs4947330	0.94[AFR][1000 genomes]
rs59002496	0.92[AFR][1000 genomes]
rs60900316	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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	257 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31702200-31706400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr6:31702400-31706400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr6:31702400-31708800	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr6:31703800-31706400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr6:31703800-31706600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr6:31703800-31706800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:31704000-31706200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr6:31704200-31706200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:31704200-31706400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:31704200-31709000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:31704200-31709000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:31704400-31705800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr6:31704400-31706400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr6:31704400-31706600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:31704400-31706600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr6:31704400-31706800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr6:31704400-31707400	Enhancers	Spleen	Spleen
18	chr6:31704400-31707400	Flanking Active TSS	Dnd41	blood
19	chr6:31704400-31707600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:31704400-31707600	Flanking Active TSS	Fetal Thymus	thymus
21	chr6:31704400-31708800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr6:31704400-31709000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr6:31704600-31706000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:31704600-31706400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:31704600-31706600	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr6:31704600-31707200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:31704600-31707200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:31704600-31707200	Enhancers	Small Intestine	intestine
29	chr6:31704600-31707400	Weak transcription	Ovary	ovary
30	chr6:31704600-31707600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr6:31704600-31707600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr6:31704600-31707800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr6:31704800-31705800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:31704800-31705800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:31704800-31706000	Weak transcription	Psoas Muscle	Psoas
36	chr6:31704800-31706200	Weak transcription	Brain Substantia Nigra	brain
37	chr6:31704800-31706200	Weak transcription	Fetal Brain Female	brain
38	chr6:31704800-31706200	Enhancers	HSMMtube	muscle
39	chr6:31704800-31706600	Enhancers	Left Ventricle	heart
40	chr6:31704800-31707000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:31704800-31707000	Weak transcription	Brain Angular Gyrus	brain
42	chr6:31704800-31707000	Weak transcription	Fetal Brain Male	brain
43	chr6:31704800-31707000	Enhancers	Stomach Mucosa	stomach
44	chr6:31704800-31707200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:31704800-31707200	Enhancers	Pancreas	Pancrea
46	chr6:31704800-31707200	Enhancers	HMEC	breast
47	chr6:31704800-31707800	Weak transcription	Aorta	Aorta
48	chr6:31705000-31705800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:31705000-31705800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:31705000-31706000	Weak transcription	Fetal Heart	heart

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