Variant report

Variant	rs199602474
Chromosome Location	chr6:27100980-27100981
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	E2F4	chr6:27099575-27101836	K562	blood:	n/a	chr6:27100770-27100781 chr6:27100767-27100782 chr6:27100769-27100786 chr6:27100771-27100780 chr6:27100772-27100779 chr6:27100772-27100783 chr6:27100772-27100779 chr6:27100772-27100779 chr6:27100769-27100786 chr6:27100771-27100779 chr6:27099754-27099763 chr6:27100772-27100783 chr6:27100772-27100783 chr6:27100768-27100782 chr6:27100880-27100892 chr6:27099714-27099721
2	RDBP	chr6:27100223-27101806	K562	blood:	n/a	n/a
3	POLR2A	chr6:27098755-27102444	GM12892	blood:	n/a	n/a
4	CEBPD	chr6:27100667-27101167	HepG2	liver:	n/a	n/a
5	GABPA	chr6:27100721-27101203	K562	blood:	n/a	n/a
6	POU2F2	chr6:27099488-27101967	GM12878	blood:	n/a	chr6:27100612-27100624 chr6:27100613-27100621 chr6:27100613-27100622 chr6:27099862-27099873 chr6:27100614-27100621 chr6:27100606-27100627 chr6:27100610-27100625 chr6:27100606-27100628 chr6:27100611-27100624 chr6:27100613-27100623 chr6:27100608-27100626 chr6:27100611-27100622 chr6:27100613-27100623 chr6:27100612-27100622 chr6:27100610-27100624
7	ATF3	chr6:27099561-27101048	A549	lung:	n/a	chr6:27100666-27100679 chr6:27100665-27100678
8	POLR2A	chr6:27099471-27102442	MCF10A-Er-Src	breast:	n/a	n/a
9	SIN3AK20	chr6:27099415-27102067	HCT-116	colon:	n/a	n/a
10	CHD1	chr6:27099141-27102382	H1-hESC	embryonic stem cell:	n/a	n/a
11	NFIC	chr6:27099344-27101224	SK-N-SH	brain:	n/a	chr6:27099820-27099837 chr6:27099820-27099836
12	SMC3	chr6:27099990-27101932	GM12878	blood:	n/a	n/a
13	CEBPB	chr6:27099653-27102745	Hela-S3	cervix:	n/a	chr6:27102346-27102357
14	ZBTB33	chr6:27100631-27101222	K562	blood:	n/a	n/a
15	SIN3AK20	chr6:27100614-27101625	A549	lung:	n/a	n/a
16	CREB1	chr6:27100583-27101218	A549	lung:	n/a	n/a
17	SIN3AK20	chr6:27100687-27101008	SK-N-SH	brain:	n/a	n/a
18	TAF7	chr6:27100284-27101918	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF12	chr6:27099094-27102549	A549	lung:	n/a	n/a
20	SMARCB1	chr6:27099251-27101942	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr6:27099465-27101926	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:27099422-27101795	SK-N-MC	brain:	n/a	n/a
23	EGR1	chr6:27100663-27102321	K562	blood:	n/a	n/a
24	PBX3	chr6:27100258-27101075	A549	lung:	n/a	n/a
25	POLR2A	chr6:27099502-27101973	PFSK-1	brain:	n/a	n/a
26	RUNX3	chr6:27099111-27102037	GM12878	blood:	n/a	chr6:27100819-27100828
27	POLR2A	chr6:27099203-27101989	U87	brain:	n/a	n/a
28	BCL11A	chr6:27100678-27101315	GM12878	blood:	n/a	n/a
29	MAX	chr6:27099445-27102587	A549	lung:	n/a	chr6:27100610-27100619
30	NR2C2	chr6:27099728-27101553	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:27098864-27102290	GM19099	blood:	n/a	n/a
32	TBP	chr6:27100388-27101020	H1-hESC	embryonic stem cell:	n/a	n/a
33	NFIC	chr6:27099573-27101054	HepG2	liver:	n/a	chr6:27099820-27099837 chr6:27099820-27099836
34	POLR2A	chr6:27100195-27101159	HUVEC	blood vessel:	n/a	n/a
35	TCF7L2	chr6:27100376-27101028	PANC-1	pancreas:	n/a	n/a
36	SP4	chr6:27099489-27102080	H1-hESC	embryonic stem cell:	n/a	chr6:27099774-27099785
37	MAX	chr6:27099601-27101372	K562	blood:	n/a	chr6:27100610-27100619
38	POLR2A	chr6:27099592-27102057	HepG2	liver:	n/a	n/a
39	GTF2B	chr6:27100301-27101102	K562	blood:	n/a	n/a
40	ELF1	chr6:27100654-27101011	A549	lung:	n/a	n/a
41	SETDB1	chr6:27099722-27101029	U2OS	brain:	n/a	n/a
42	BHLHE40	chr6:27100292-27102316	GM12878	blood:	n/a	n/a
43	EGR1	chr6:27100766-27101026	GM12878	blood:	n/a	n/a
44	EGR1	chr6:27100725-27101041	K562	blood:	n/a	n/a
45	ZBTB33	chr6:27100165-27101170	HCT-116	colon:	n/a	n/a
46	MAX	chr6:27098859-27101965	Hela-S3	cervix:	n/a	chr6:27100610-27100619
47	POLR2A	chr6:27098707-27102455	GM12878	blood:	n/a	n/a
48	SIN3A	chr6:27099465-27102013	GM12878	blood:	n/a	n/a
49	PML	chr6:27099393-27102534	K562	blood:	n/a	n/a
50	JUND	chr6:27099599-27101288	K562	blood:	n/a	chr6:27100646-27100655

No.	Distal block	Cell Line	Cell type
1	chr6:26283553..26287733-chr6:27097522..27103890,12	K562	blood:
2	chr6:27100619..27103482-chr6:27790924..27794224,3	MCF-7	breast:
3	chr22:19466508..19469861-chr6:27098397..27102298,3	K562	blood:
4	chr6:26156157..26159561-chr6:27098059..27103137,9	MCF-7	breast:
5	chr16:50775848..50776513-chr6:27100740..27101506,2	Hela-S3	cervix:
6	chr22:47157963..47158559-chr6:27100624..27101333,2	HCT-116	colon:
7	chr6:27096288..27105112-chr6:27855525..27865082,32	K562	blood:
8	chr1:17231243..17231999-chr6:27100768..27101644,2	MCF-7	breast:
9	chr6:26187507..26190261-chr6:27099153..27102365,6	MCF-7	breast:
10	chr13:60970490..60971034-chr6:27100970..27101709,2	Hela-S3	cervix:
11	chr1:28975098..28975855-chr6:27100947..27101470,2	Hela-S3	cervix:
12	chr6:26214809..26219329-chr6:27098036..27102129,6	MCF-7	breast:
13	chr11:31530854..31531457-chr6:27100673..27101491,3	Hela-S3	cervix:
14	chr17:56707767..56709284-chr6:27100239..27101746,2	MCF-7	breast:
15	chr6:27094403..27106138-chr6:27772392..27783072,46	MCF-7	breast:
16	chr6:26210558..26220469-chr6:27093552..27103796,28	K562	blood:
17	chr6:27100385..27101245-chr6:27775487..27776359,3	Hela-S3	cervix:
18	chr6:27100578..27101684-chr6:27114629..27115627,5	Hela-S3	cervix:
19	chr3:64006479..64009154-chr6:27099911..27101593,2	MCF-7	breast:
20	chr6:26519250..26523737-chr6:27099178..27105777,8	K562	blood:
21	chr6:26233448..26235462-chr6:27099272..27101626,2	MCF-7	breast:
22	chr1:28832279..28832962-chr6:27100422..27101039,2	Hela-S3	cervix:
23	chr6:26155271..26161648-chr6:27095163..27104437,21	K562	blood:
24	chr6:26030558..26034410-chr6:27100755..27103505,3	MCF-7	breast:
25	chr12:46383844..46385059-chr6:27100517..27101410,4	Hela-S3	cervix:
26	chr6:26023233..26029617-chr6:27098032..27102736,8	MCF-7	breast:
27	chr6:26121882..26125935-chr6:27097712..27102367,10	MCF-7	breast:
28	chr3:135968947..135969500-chr6:27100458..27101422,2	HCT-116	colon:
29	chr5:43555615..43556531-chr6:27100554..27101250,2	Hela-S3	cervix:
30	chr6:26196890..26209578-chr6:27096615..27108451,46	K562	blood:
31	chr16:29817417..29818004-chr6:27100503..27101104,2	Hela-S3	cervix:
32	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:
33	chr6:27099529..27101818-chr6:27857109..27860986,3	MCF-7	breast:
34	chr3:170586359..170588667-chr6:27099127..27101405,2	K562	blood:
35	chr6:27100486..27101282-chr6:27860497..27861330,3	Hela-S3	cervix:
36	chr6:27100852..27101558-chr6:27839278..27840055,2	NB4	blood:
37	chr2:242625924..242626816-chr6:27100504..27101274,2	Hela-S3	cervix:
38	chr6:26613084..26615086-chr6:27100587..27102227,2	K562	blood:
39	chr6:27098287..27101143-chr6:27833943..27835585,2	MCF-7	breast:
40	chr17:25620650..25621972-chr6:27100246..27101250,3	Hela-S3	cervix:
41	chr6:26986141..26989315-chr6:27099693..27102722,3	K562	blood:
42	chr6:27098287..27103463-chr6:27796109..27800380,7	K562	blood:
43	chr16:31884950..31886788-chr6:27100904..27102927,2	MCF-7	breast:
44	chr6:27100626..27101224-chr6:27832642..27833254,3	Hela-S3	cervix:
45	chr6:26248241..26251766-chr6:27097726..27103043,5	MCF-7	breast:
46	chr1:53163958..53164880-chr6:27100620..27101614,2	Hela-S3	cervix:
47	chr6:27098129..27102708-chr6:27857691..27863156,15	MCF-7	breast:
48	chr6:26231234..26236589-chr6:27099738..27104932,8	K562	blood:
49	chr18:12376373..12377442-chr6:27100665..27101926,4	Hela-S3	cervix:
50	chr3:179367825..179369466-chr6:27100717..27102365,2	MCF-7	breast:

Variant related genes	Relation type
HIST1H2BJ	TF binding region
ENSG00000219770	Chromatin interaction
ENSG00000164951	Chromatin interaction
ENSG00000264947	Chromatin interaction
ENSG00000198366	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000054611	Chromatin interaction
ENSG00000175567	Chromatin interaction
ENSG00000087460	Chromatin interaction
ENSG00000217275	Chromatin interaction
ENSG00000168393	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000162695	Chromatin interaction
ENSG00000263583	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000150756	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000182572	Chromatin interaction
ENSG00000152601	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000199289	Chromatin interaction
ENSG00000148950	Chromatin interaction
ENSG00000162694	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000083544	Chromatin interaction
ENSG00000139218	Chromatin interaction
ENSG00000184357	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000119403	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000219738	Chromatin interaction
ENSG00000103495	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000119523	Chromatin interaction
ENSG00000147586	Chromatin interaction
ENSG00000001461	Chromatin interaction
ENSG00000198518	Chromatin interaction
ENSG00000119335	Chromatin interaction
ENSG00000249592	Chromatin interaction
ENSG00000185238	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000271071	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000093009	Chromatin interaction
ENSG00000197238	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000106803	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000179152	Chromatin interaction
ENSG00000082898	Chromatin interaction
ENSG00000167325	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000163584	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000169908	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000113407	Chromatin interaction
ENSG00000124575	Chromatin interaction
ENSG00000240541	Chromatin interaction
ENSG00000163945	Chromatin interaction
ENSG00000215301	Chromatin interaction
ENSG00000154734	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000217646	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000243977	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000197459	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000134900	Chromatin interaction
ENSG00000127947	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000173456	Chromatin interaction
ENSG00000218281	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000262468	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000164051	Chromatin interaction
ENSG00000198374	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000150753	Chromatin interaction
ENSG00000185947	Chromatin interaction
ENSG00000108669	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000111640	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000070010	Chromatin interaction
ENSG00000196712	Chromatin interaction
ENSG00000238621	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000124275	Chromatin interaction
ENSG00000232112	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000109046	Chromatin interaction
ENSG00000001460	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000188002	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000157456	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000228022	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000114054	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000184897	Chromatin interaction
ENSG00000196966	Chromatin interaction
ENSG00000271937	Chromatin interaction
ENSG00000115421	Chromatin interaction
ENSG00000162377	Chromatin interaction
ENSG00000179262	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000260708	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000187239	Chromatin interaction
ENSG00000224843	Chromatin interaction
ENSG00000134152	Chromatin interaction
ENSG00000102796	Chromatin interaction
ENSG00000109911	Chromatin interaction
ENSG00000238610	Chromatin interaction
ENSG00000083799	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000196331	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases
3	nsv970090	chr6:27100909-27101502	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	168 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27098000-27102200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27098200-27101800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:27098400-27101600	Active TSS	GM12878-XiMat	blood
4	chr6:27098400-27102400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:27098400-27102400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:27098400-27102800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:27098600-27101000	Active TSS	HMEC	breast
8	chr6:27098600-27102000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:27098600-27102200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:27098600-27102400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr6:27098600-27102400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:27098800-27101600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:27098800-27101800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr6:27098800-27101800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:27098800-27102000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:27098800-27102000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:27098800-27102200	Active TSS	Brain Germinal Matrix	brain
18	chr6:27098800-27102400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:27098800-27102400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:27098800-27102400	Active TSS	Fetal Kidney	kidney
21	chr6:27098800-27102400	Active TSS	NHLF	lung
22	chr6:27098800-27102800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:27098800-27102800	Active TSS	A549	lung
24	chr6:27098800-27104600	Active TSS	K562	blood
25	chr6:27099000-27101000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:27099000-27101000	Active TSS	Muscle Satellite Cultured Cells	--
27	chr6:27099000-27101200	Active TSS	Fetal Brain Male	brain
28	chr6:27099000-27101400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:27099000-27101600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr6:27099000-27101600	Active TSS	Fetal Intestine Large	intestine
31	chr6:27099000-27101600	Active TSS	Psoas Muscle	Psoas
32	chr6:27099000-27101600	Active TSS	HSMMtube	muscle
33	chr6:27099000-27101800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:27099000-27101800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:27099000-27102000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:27099000-27102000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:27099000-27102000	Active TSS	Right Ventricle	heart
38	chr6:27099000-27102200	Active TSS	NHDF-Ad	bronchial
39	chr6:27099000-27102400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr6:27099000-27102400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:27099000-27102400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr6:27099200-27101000	Active TSS	Primary hematopoietic stem cells	blood
43	chr6:27099200-27101200	Active TSS	Fetal Stomach	stomach
44	chr6:27099200-27101200	Active TSS	Ovary	ovary
45	chr6:27099200-27101200	Active TSS	HSMM	muscle
46	chr6:27099200-27101400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:27099200-27101400	Active TSS	NH-A	brain
48	chr6:27099200-27101400	Active TSS	NHEK	skin
49	chr6:27099200-27101600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr6:27099200-27101600	Active TSS	Fetal Heart	heart

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