Variant report

Variant	rs398066381
Chromosome Location	chr6:149638574-149638575
allele	-/GCC
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	chr6:149637955-149639326	A549	lung:	n/a	n/a
2	POLR2A	chr6:149637838-149638751	Hela-S3	cervix:	n/a	n/a
3	HDAC2	chr6:149638181-149639251	MCF-7	breast:	n/a	chr6:149638294-149638308
4	POLR2A	chr6:149638050-149638700	PBDE	blood:	n/a	n/a
5	TAF1	chr6:149638174-149638765	SK-N-SH	brain:	n/a	n/a
6	HCFC1	chr6:149638010-149639454	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:149638196-149638933	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:149638055-149639364	PFSK-1	brain:	n/a	n/a
9	MAX	chr6:149638366-149638834	MCF-7	breast:	n/a	n/a
10	EP300	chr6:149638263-149638755	SK-N-SH_RA	brain:	n/a	chr6:149638288-149638302
11	MXI1	chr6:149637889-149639401	HepG2	liver:	n/a	n/a
12	RCOR1	chr6:149637948-149639387	K562	blood:	n/a	n/a
13	CBX3	chr6:149638290-149638781	K562	blood:	n/a	n/a
14	ZBTB7A	chr6:149637882-149638653	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr6:149637977-149639318	HUVEC	blood vessel:	n/a	n/a
16	TCF12	chr6:149638522-149638790	HepG2	liver:	n/a	n/a
17	TAF1	chr6:149638085-149639268	ECC-1	luminal epithelium:	n/a	n/a
18	TCF7L2	chr6:149638302-149638643	PANC-1	pancreas:	n/a	n/a
19	E2F4	chr6:149637957-149639599	K562	blood:	n/a	chr6:149638871-149638880 chr6:149638628-149638638 chr6:149639539-149639548 chr6:149638865-149638875 chr6:149638663-149638672 chr6:149639539-149639551 chr6:149638117-149638127
20	POLR2A	chr6:149637920-149639978	GM18951	blood:	n/a	n/a
21	ELF1	chr6:149638012-149638858	MCF-7	breast:	n/a	chr6:149638617-149638629 chr6:149638329-149638341 chr6:149638239-149638252
22	EP300	chr6:149638212-149639074	H1-hESC	embryonic stem cell:	n/a	chr6:149638288-149638302 chr6:149638862-149638878 chr6:149638241-149638248
23	PML	chr6:149638093-149638596	K562	blood:	n/a	n/a
24	GATA3	chr6:149638092-149639049	A549	lung:	n/a	n/a
25	YY1	chr6:149638506-149638722	HCT-116	colon:	n/a	chr6:149638667-149638677 chr6:149638667-149638689 chr6:149638663-149638672
26	ZBTB33	chr6:149638211-149638830	HepG2	liver:	n/a	chr6:149638640-149638655
27	MAZ	chr6:149637125-149639723	IMR90	lung:	n/a	chr6:149639590-149639599 chr6:149639537-149639547
28	SMC3	chr6:149637922-149638757	Hela-S3	cervix:	n/a	n/a
29	JUND	chr6:149637951-149640130	K562	blood:	n/a	chr6:149639590-149639597 chr6:149639589-149639599 chr6:149638290-149638299 chr6:149639408-149639417 chr6:149639590-149639598 chr6:149639591-149639602 chr6:149639590-149639598
30	EP300	chr6:149638188-149638845	K562	blood:	n/a	chr6:149638288-149638302 chr6:149638241-149638248
31	ZBTB33	chr6:149638216-149638869	GM12878	blood:	n/a	chr6:149638640-149638655
32	MAZ	chr6:149637726-149640212	K562	blood:	n/a	chr6:149639590-149639599 chr6:149639537-149639547
33	YY1	chr6:149638323-149638851	K562	blood:	n/a	chr6:149638667-149638677 chr6:149638667-149638689 chr6:149638663-149638672
34	MAFF	chr6:149638562-149638668	K562	blood:	n/a	n/a
35	YY1	chr6:149637961-149639005	GM12878	blood:	n/a	chr6:149638898-149638909 chr6:149638667-149638677 chr6:149638126-149638140 chr6:149638862-149638876 chr6:149638868-149638882 chr6:149638667-149638689 chr6:149638663-149638672
36	FOXM1	chr6:149637772-149638806	GM12878	blood:	n/a	n/a
37	PAX5	chr6:149638094-149639058	GM12892	blood:	n/a	chr6:149638291-149638300
38	POLR2A	chr6:149638015-149639377	GM10847	blood:	n/a	n/a
39	MAFK	chr6:149638535-149638584	K562	blood:	n/a	n/a
40	TAF7	chr6:149638076-149638675	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr6:149638152-149639007	ECC-1	luminal epithelium:	n/a	n/a
42	TAF1	chr6:149637956-149639323	HepG2	liver:	n/a	n/a
43	YY1	chr6:149638120-149638755	GM12891	blood:	n/a	chr6:149638667-149638677 chr6:149638126-149638140 chr6:149638667-149638689 chr6:149638663-149638672
44	SIN3AK20	chr6:149637838-149639250	PANC-1	pancreas:	n/a	n/a
45	MAX	chr6:149638216-149638756	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr6:149637921-149639452	K562	blood:	n/a	n/a
47	ZBTB33	chr6:149638176-149638859	A549	lung:	n/a	chr6:149638640-149638655
48	REST	chr6:149637719-149640159	H1-neurons	neurons:	n/a	chr6:149639441-149639454 chr6:149639160-149639167 chr6:149639437-149639457 chr6:149638120-149638133 chr6:149639437-149639457 chr6:149639158-149639167
49	MAX	chr6:149638365-149638875	SK-N-SH	brain:	n/a	n/a
50	ZBTB33	chr6:149638142-149638890	HCT-116	colon:	n/a	chr6:149638640-149638655

No.	Distal block	Cell Line	Cell type
1	chr12:32832084..32832584-chr6:149638471..149638974,2	NB4	blood:
2	chr6:149349779..149353985-chr6:149637379..149639962,5	MCF-7	breast:
3	chr6:149637077..149638837-chr6:149727129..149729209,2	K562	blood:
4	chr6:149557890..149560221-chr6:149637001..149638608,2	MCF-7	breast:
5	chr6:149538892..149540721-chr6:149638148..149641111,2	MCF-7	breast:
6	chr6:149409902..149411675-chr6:149636224..149638635,2	K562	blood:
7	chr6:149638315..149640262-chr6:149865472..149868393,2	K562	blood:
8	chr6:149636797..149639661-chr6:149663144..149666590,3	K562	blood:
9	chr6:149397256..149399835-chr6:149636593..149638648,2	MCF-7	breast:
10	chr6:149516981..149518503-chr6:149637137..149638798,2	MCF-7	breast:
11	chr6:149625453..149629470-chr6:149636058..149640474,5	MCF-7	breast:
12	chr4:174090099..174090929-chr6:149638008..149638852,2	NB4	blood:

Variant related genes	Relation type
TAB2	TF binding region
ENSG00000131013	Chromatin interaction
ENSG00000245213	Chromatin interaction
ENSG00000236591	Chromatin interaction
ENSG00000055208	Chromatin interaction
ENSG00000228408	Chromatin interaction
ENSG00000087470	Chromatin interaction
ENSG00000216265	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1015360	chr6:149609804-149649982	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3377797	chr6:149637284-149640632	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
5	esv3365966	chr6:149637634-149640707	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
6	esv3389424	chr6:149638059-149640257	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
7	esv1261378	chr6:149638571-149638574	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149637200-149639800	Active TSS	K562	blood
2	chr6:149637200-149640000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:149637200-149640200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:149637200-149640200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:149637200-149640400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:149637200-149640400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:149637200-149640800	Active TSS	A549	lung
8	chr6:149637200-149641000	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr6:149637400-149639600	Active TSS	Fetal Muscle Leg	muscle
10	chr6:149637400-149639600	Active TSS	Psoas Muscle	Psoas
11	chr6:149637400-149639800	Active TSS	Thymus	Thymus
12	chr6:149637400-149640200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:149637400-149640400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:149637400-149640400	Active TSS	Right Ventricle	heart
15	chr6:149637400-149640400	Active TSS	Hela-S3	cervix
16	chr6:149637400-149640600	Active TSS	NHDF-Ad	bronchial
17	chr6:149637400-149640800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr6:149637400-149640800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:149637400-149640800	Active TSS	Brain Cingulate Gyrus	brain
20	chr6:149637400-149640800	Active TSS	Fetal Stomach	stomach
21	chr6:149637400-149641000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:149637400-149641200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr6:149637400-149641200	Active TSS	Brain Angular Gyrus	brain
24	chr6:149637400-149641200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:149637400-149641200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:149637400-149641200	Active TSS	Stomach Smooth Muscle	stomach
27	chr6:149637400-149641200	Active TSS	HSMMtube	muscle
28	chr6:149637400-149641200	Active TSS	NH-A	brain
29	chr6:149637400-149641600	Active TSS	Brain Substantia Nigra	brain
30	chr6:149637400-149642000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:149637400-149642600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:149637600-149639600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:149637600-149639600	Active TSS	Fetal Lung	lung
34	chr6:149637600-149639800	Active TSS	Duodenum Mucosa	Duodenum
35	chr6:149637600-149640200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:149637600-149640200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:149637600-149640200	Active TSS	Brain Germinal Matrix	brain
38	chr6:149637600-149640200	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr6:149637600-149640400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr6:149637600-149640400	Active TSS	Fetal Intestine Small	intestine
41	chr6:149637600-149640400	Active TSS	Fetal Muscle Trunk	muscle
42	chr6:149637600-149640600	Active TSS	Colonic Mucosa	Colon
43	chr6:149637600-149640800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:149637600-149640800	Active TSS	Brain Hippocampus Middle	brain
45	chr6:149637600-149640800	Active TSS	Colon Smooth Muscle	Colon
46	chr6:149637600-149640800	Active TSS	Ovary	ovary
47	chr6:149637600-149640800	Active TSS	Rectal Smooth Muscle	rectum
48	chr6:149637600-149640800	Active TSS	HSMM	muscle
49	chr6:149637600-149641000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:149637600-149641000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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