Variant report

Variant	rs6940256
Chromosome Location	chr6:146134754-146134755
allele	C/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	EP300	chr6:146134469-146135365	GM12878	blood:	n/a	n/a
2	MAFF	chr6:146134033-146135429	K562	blood:	n/a	n/a
3	NFE2	chr6:146134426-146134768	K562	blood:	n/a	chr6:146134575-146134584 chr6:146134574-146134589 chr6:146134595-146134604 chr6:146134594-146134609
4	MYC	chr6:146134350-146135534	MCF10A-Er-Src	breast:	n/a	chr6:146134677-146134686
5	IRF1	chr6:146134203-146135437	K562	blood:	n/a	chr6:146134781-146134798
6	TAL1	chr6:146134098-146136289	K562	blood:	n/a	n/a
7	MAFK	chr6:146134296-146135534	HepG2	liver:	n/a	chr6:146134520-146134536 chr6:146134523-146134537 chr6:146134525-146134536 chr6:146134520-146134535
8	POLR2A	chr6:146134353-146136631	IMR90	lung:	n/a	n/a
9	POLR2A	chr6:146131654-146136799	K562	blood:	n/a	n/a
10	CHD1	chr6:146133620-146136381	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr6:146134307-146136784	K562	blood:	n/a	chr6:146134574-146134584
12	MAFK	chr6:146134028-146135472	Hela-S3	cervix:	n/a	chr6:146134520-146134536 chr6:146134523-146134537 chr6:146134525-146134536 chr6:146134520-146134535
13	JUN	chr6:146134356-146134768	HUVEC	blood vessel:	n/a	chr6:146134574-146134584
14	TBL1XR1	chr6:146134125-146135435	K562	blood:	n/a	n/a
15	E2F4	chr6:146134465-146134836	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr6:146134333-146134790	HUVEC	blood vessel:	n/a	chr6:146134574-146134584
17	MAFK	chr6:146134181-146134849	IMR90	lung:	n/a	chr6:146134520-146134536 chr6:146134523-146134537 chr6:146134525-146134536 chr6:146134520-146134535
18	CUX1	chr6:146133615-146135448	K562	blood:	n/a	n/a
19	MAFK	chr6:146134298-146135350	H1-hESC	embryonic stem cell:	n/a	chr6:146134520-146134536 chr6:146134523-146134537 chr6:146134525-146134536 chr6:146134520-146134535
20	POLR2A	chr6:146134585-146134858	ProgFib	skin:	n/a	n/a
21	POLR2A	chr6:146134369-146134791	HUVEC	blood vessel:	n/a	n/a
22	STAT3	chr6:146134281-146134775	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:146134386-146136549	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr6:146134290-146134767	MCF10A-Er-Src	breast:	n/a	chr6:146134574-146134584
25	EP300	chr6:146134251-146136741	K562	blood:	n/a	chr6:146134458-146134472 chr6:146135702-146135711 chr6:146135741-146135750 chr6:146135621-146135637 chr6:146134457-146134471
26	IRF1	chr6:146134195-146135475	K562	blood:	n/a	chr6:146134781-146134798
27	POLR2A	chr6:146134385-146134838	U87	brain:	n/a	n/a
28	MAFK	chr6:146134059-146135808	K562	blood:	n/a	chr6:146134520-146134536 chr6:146134523-146134537 chr6:146134525-146134536 chr6:146134520-146134535
29	POLR2A	chr6:146134516-146137321	K562	blood:	n/a	n/a
30	POLR2A	chr6:146134503-146136765	K562	blood:	n/a	n/a
31	MYC	chr6:146134401-146136694	K562	blood:	n/a	chr6:146134677-146134686
32	RCOR1	chr6:146134316-146137364	K562	blood:	n/a	n/a
33	POLR2A	chr6:146134385-146134796	U87	brain:	n/a	n/a
34	BACH1	chr6:146134061-146135505	K562	blood:	n/a	n/a
35	ARID3A	chr6:146133535-146135376	K562	blood:	n/a	n/a
36	SIN3A	chr6:146134385-146137137	H1-hESC	embryonic stem cell:	n/a	chr6:146135695-146135708 chr6:146135627-146135640 chr6:146135572-146135585 chr6:146135786-146135799 chr6:146135628-146135637 chr6:146136748-146136759
37	MAFF	chr6:146134286-146135380	HepG2	liver:	n/a	n/a
38	ZNF384	chr6:146134264-146135081	K562	blood:	n/a	n/a
39	BACH1	chr6:146134137-146135753	H1-hESC	embryonic stem cell:	n/a	n/a
40	MXI1	chr6:146134080-146136762	IMR90	lung:	n/a	n/a
41	MAZ	chr6:146134739-146137396	IMR90	lung:	n/a	chr6:146136755-146136765
42	TBP	chr6:146134414-146135482	Hela-S3	cervix:	n/a	n/a
43	EP300	chr6:146134361-146135033	Hela-S3	cervix:	n/a	chr6:146134458-146134472 chr6:146134457-146134471
44	POLR2A	chr6:146134497-146136626	PBDE	blood:	n/a	n/a
45	NR2F2	chr6:146134360-146135605	K562	blood:	n/a	chr6:146134909-146134924
46	FOS	chr6:146134315-146135337	MCF10A-Er-Src	breast:	n/a	chr6:146134574-146134584
47	POLR2A	chr6:146134300-146134945	U87	brain:	n/a	n/a
48	POLR2A	chr6:146134702-146137207	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr6:146134474-146137860	K562	blood:	n/a	n/a
50	MAFK	chr6:146134351-146135503	HepG2	liver:	n/a	chr6:146134520-146134536 chr6:146134523-146134537 chr6:146134525-146134536 chr6:146134520-146134535

No.	Distal block	Cell Line	Cell type
1	chr6:146133477..146135631-chr6:146236240..146238598,3	K562	blood:
2	chr6:146133026..146135079-chr6:146152684..146154292,2	MCF-7	breast:
3	chr6:146052168..146062191-chr6:146124046..146141258,59	K562	blood:
4	chr6:146068989..146070987-chr6:146133294..146135576,2	K562	blood:
5	chr6:146054764..146058281-chr6:146133205..146137397,13	MCF-7	breast:
6	chr6:146134017..146135880-chr6:146153560..146155544,2	K562	blood:
7	chr6:146133273..146135855-chr6:146228681..146230376,2	K562	blood:
8	chr6:146133534..146136752-chr6:146283932..146287911,4	K562	blood:
9	chr6:146133842..146136202-chr6:146273758..146275982,2	K562	blood:
10	chr6:146047378..146061811-chr6:146118130..146137627,77	K562	blood:
11	chr6:146055720..146057944-chr6:146132901..146135141,3	MCF-7	breast:
12	chr6:146133506..146135427-chr6:146211550..146213483,2	K562	blood:
13	chr6:146133340..146135050-chr6:146244297..146247013,2	K562	blood:

Variant related genes	Relation type
ENSG00000235652	TF binding region
ENSG00000112425	Chromatin interaction
ENSG00000270638	Chromatin interaction
ENSG00000146414	Chromatin interaction
ENSG00000270828	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs12332892	1.00[EUR][1000 genomes]
rs1591698	0.85[AMR][1000 genomes]
rs28587324	0.85[AMR][1000 genomes]
rs28738876	1.00[EUR][1000 genomes]
rs4896849	0.86[AFR][1000 genomes]
rs55658016	0.85[AMR][1000 genomes]
rs55671343	1.00[EUR][1000 genomes]
rs55746945	0.85[AMR][1000 genomes]
rs55879513	1.00[EUR][1000 genomes]
rs56954340	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57057101	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57105639	0.85[AMR][1000 genomes]
rs57776904	1.00[EUR][1000 genomes]
rs58290238	1.00[EUR][1000 genomes]
rs58702332	1.00[EUR][1000 genomes]
rs59951042	1.00[EUR][1000 genomes]
rs60043524	0.89[AFR][1000 genomes]
rs60162832	0.85[AMR][1000 genomes]
rs60609437	0.85[AMR][1000 genomes]
rs60698481	1.00[EUR][1000 genomes]
rs60885622	1.00[EUR][1000 genomes]
rs60899243	1.00[EUR][1000 genomes]
rs6570710	0.85[AMR][1000 genomes]
rs6570714	0.85[AMR][1000 genomes]
rs6570720	0.85[AMR][1000 genomes]
rs6570722	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6570725	1.00[EUR][1000 genomes]
rs6570727	1.00[EUR][1000 genomes]
rs6570730	1.00[EUR][1000 genomes]
rs6900158	0.85[AMR][1000 genomes]
rs6900565	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6900607	1.00[EUR][1000 genomes]
rs6901219	0.85[AMR][1000 genomes]
rs6901587	0.85[AMR][1000 genomes]
rs6902358	0.85[AMR][1000 genomes]
rs6902952	0.85[AMR][1000 genomes]
rs6904612	1.00[EUR][1000 genomes]
rs6913497	0.85[AMR][1000 genomes]
rs6914491	0.85[AMR][1000 genomes]
rs6914746	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6918314	1.00[EUR][1000 genomes]
rs6920565	1.00[EUR][1000 genomes]
rs6921110	0.85[AMR][1000 genomes]
rs6921551	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6924714	1.00[EUR][1000 genomes]
rs6927960	0.85[AMR][1000 genomes]
rs6928607	1.00[EUR][1000 genomes]
rs6928780	0.85[AMR][1000 genomes]
rs6930335	0.85[AMR][1000 genomes]
rs6931280	0.85[AMR][1000 genomes]
rs6935019	1.00[EUR][1000 genomes]
rs6936647	1.00[EUR][1000 genomes]
rs6936879	1.00[EUR][1000 genomes]
rs6938028	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6938895	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6940415	0.85[AMR][1000 genomes]
rs73566113	0.85[AMR][1000 genomes]
rs73566115	0.85[AMR][1000 genomes]
rs73566121	0.85[AMR][1000 genomes]
rs73566126	0.85[AMR][1000 genomes]
rs73566139	0.85[AMR][1000 genomes]
rs73566140	0.85[AMR][1000 genomes]
rs73566143	1.00[EUR][1000 genomes]
rs73566157	0.85[AMR][1000 genomes]
rs73566168	0.85[AMR][1000 genomes]
rs73568130	0.85[AMR][1000 genomes]
rs73568133	0.85[AMR][1000 genomes]
rs73568134	0.85[AMR][1000 genomes]
rs73568145	0.85[AMR][1000 genomes]
rs73568148	0.85[AMR][1000 genomes]
rs73568151	0.85[AMR][1000 genomes]
rs73568185	0.85[AMR][1000 genomes]
rs73568188	0.85[AMR][1000 genomes]
rs73568386	1.00[EUR][1000 genomes]
rs73568401	1.00[EUR][1000 genomes]
rs73570006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570010	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570014	0.88[AFR][1000 genomes]
rs73570033	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570037	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73570042	1.00[EUR][1000 genomes]
rs73572161	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73572189	1.00[EUR][1000 genomes]
rs73574105	1.00[EUR][1000 genomes]
rs73576133	1.00[EUR][1000 genomes]
rs73576161	1.00[EUR][1000 genomes]
rs73576173	1.00[EUR][1000 genomes]
rs73576180	1.00[EUR][1000 genomes]
rs73579498	0.85[AMR][1000 genomes]
rs73580158	1.00[EUR][1000 genomes]
rs73580169	1.00[EUR][1000 genomes]
rs73580174	1.00[EUR][1000 genomes]
rs73580180	1.00[EUR][1000 genomes]
rs73580202	1.00[EUR][1000 genomes]
rs73582109	1.00[EUR][1000 genomes]
rs73582112	1.00[EUR][1000 genomes]
rs73582116	1.00[EUR][1000 genomes]
rs73582125	1.00[EUR][1000 genomes]
rs73582139	1.00[EUR][1000 genomes]
rs73582149	1.00[EUR][1000 genomes]
rs73582176	1.00[EUR][1000 genomes]
rs73582189	1.00[EUR][1000 genomes]
rs73584226	1.00[EUR][1000 genomes]
rs73782053	0.85[AMR][1000 genomes]
rs73782068	0.85[AMR][1000 genomes]
rs7740567	1.00[EUR][1000 genomes]
rs7741139	0.85[AMR][1000 genomes]
rs7744082	0.85[AMR][1000 genomes]
rs7745379	0.85[AMR][1000 genomes]
rs7745722	0.85[AMR][1000 genomes]
rs7753832	0.85[AMR][1000 genomes]
rs7758839	0.85[AMR][1000 genomes]
rs7761251	0.85[AMR][1000 genomes]
rs7761577	0.85[AMR][1000 genomes]
rs7762880	1.00[EUR][1000 genomes]
rs7763273	0.85[AMR][1000 genomes]
rs9322040	1.00[EUR][1000 genomes]
rs9497422	1.00[EUR][1000 genomes]
rs9497423	1.00[EUR][1000 genomes]
rs9497430	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr6:146110200-146135000	Weak transcription	Pancreas	Pancrea
2	chr6:146112400-146135000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:146119200-146134800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:146119400-146135000	Weak transcription	Small Intestine	intestine
5	chr6:146121400-146135000	Weak transcription	Gastric	stomach
6	chr6:146127200-146134800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:146127400-146134800	Weak transcription	Fetal Thymus	thymus
8	chr6:146127400-146135000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:146127400-146135000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:146127600-146134800	Weak transcription	Left Ventricle	heart
11	chr6:146127600-146134800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:146127600-146135000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:146127600-146135000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:146127600-146135000	Weak transcription	Esophagus	oesophagus
15	chr6:146127600-146135000	Weak transcription	Lung	lung
16	chr6:146127600-146135000	Weak transcription	Spleen	Spleen
17	chr6:146130400-146135000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:146131200-146137000	Active TSS	GM12878-XiMat	blood
19	chr6:146132000-146134800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:146132000-146136200	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:146132600-146136800	Active TSS	K562	blood
22	chr6:146132800-146137000	Active TSS	Colon Smooth Muscle	Colon
23	chr6:146132800-146137400	Active TSS	A549	lung
24	chr6:146133000-146135200	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr6:146133000-146135400	Active TSS	Right Atrium	heart
26	chr6:146133000-146136000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:146133000-146136800	Active TSS	Hela-S3	cervix
28	chr6:146133000-146136800	Active TSS	HSMMtube	muscle
29	chr6:146133000-146136800	Active TSS	NHLF	lung
30	chr6:146133000-146137000	Active TSS	Ovary	ovary
31	chr6:146133200-146134800	Weak transcription	Stomach Mucosa	stomach
32	chr6:146133200-146136800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr6:146133200-146137000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:146133200-146137000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr6:146133200-146137000	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:146133200-146137200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:146133400-146136200	Active TSS	HMEC	breast
38	chr6:146133400-146136800	Active TSS	Rectal Smooth Muscle	rectum
39	chr6:146133400-146137000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:146133400-146137000	Active TSS	Psoas Muscle	Psoas
41	chr6:146133400-146137200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr6:146133600-146134800	Enhancers	Liver	Liver
43	chr6:146133600-146134800	Flanking Active TSS	Dnd41	blood
44	chr6:146133600-146135600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr6:146133600-146136000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:146133600-146136400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:146133600-146136800	Active TSS	Brain Germinal Matrix	brain
48	chr6:146133600-146136800	Active TSS	NHDF-Ad	bronchial
49	chr6:146133600-146137000	Active TSS	Aorta	Aorta
50	chr6:146133600-146137400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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