Variant report

Variant	rs114014387
Chromosome Location	chr6:149638084-149638085
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	chr6:149637955-149639326	A549	lung:	n/a	n/a
2	POLR2A	chr6:149637838-149638751	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:149638050-149638700	PBDE	blood:	n/a	n/a
4	HCFC1	chr6:149638010-149639454	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:149638055-149639364	PFSK-1	brain:	n/a	n/a
6	MXI1	chr6:149637889-149639401	HepG2	liver:	n/a	n/a
7	RCOR1	chr6:149637948-149639387	K562	blood:	n/a	n/a
8	ZBTB7A	chr6:149637882-149638653	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr6:149637977-149639318	HUVEC	blood vessel:	n/a	n/a
10	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
11	POLR2A	chr6:149637920-149639978	GM18951	blood:	n/a	n/a
12	ELF1	chr6:149638012-149638858	MCF-7	breast:	n/a	chr6:149638617-149638629 chr6:149638329-149638341 chr6:149638239-149638252
13	CTCF	chr6:149637980-149638130	SK-N-SH_RA	brain:	n/a	n/a
14	MAZ	chr6:149637125-149639723	IMR90	lung:	n/a	chr6:149639590-149639599 chr6:149639537-149639547
15	SMC3	chr6:149637922-149638757	Hela-S3	cervix:	n/a	n/a
16	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
17	POLR2A	chr6:149637942-149638160	SK-N-SH	brain:	n/a	n/a
18	MAZ	chr6:149637726-149640212	K562	blood:	n/a	chr6:149639590-149639599 chr6:149639537-149639547
19	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
20	FOXM1	chr6:149637772-149638806	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:149638015-149639377	GM10847	blood:	n/a	n/a
22	TAF7	chr6:149638076-149638675	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr6:149637956-149639323	HepG2	liver:	n/a	n/a
24	CTCF	chr6:149637940-149638090	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr6:149637838-149639250	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr6:149637921-149639452	K562	blood:	n/a	n/a
27	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
28	CTCF	chr6:149637940-149638090	HCPEpiC	choroid plexus:	n/a	n/a
29	POLR2A	chr6:149637874-149638752	GM12891	blood:	n/a	n/a
30	POLR2A	chr6:149637876-149640263	GM18505	blood:	n/a	n/a
31	POLR2A	chr6:149637988-149639271	HEK293	kidney:	n/a	n/a
32	POLR2A	chr6:149637888-149638684	GM12892	blood:	n/a	n/a
33	POLR2A	chr6:149637900-149639424	HL-60	blood:	n/a	n/a
34	POLR2A	chr6:149637728-149640345	GM12878	blood:	n/a	n/a
35	ZBTB7A	chr6:149637938-149639911	K562	blood:	n/a	n/a
36	CREB1	chr6:149637892-149639789	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:149637945-149639985	GM15510	blood:	n/a	n/a
38	POLR2A	chr6:149637844-149639409	GM12892	blood:	n/a	n/a
39	POLR2A	chr6:149637919-149638102	GM12878	blood:	n/a	n/a
40	YY1	chr6:149637905-149639542	GM12892	blood:	n/a	chr6:149639156-149639170 chr6:149638898-149638909 chr6:149639363-149639374 chr6:149638667-149638677 chr6:149638126-149638140 chr6:149638862-149638876 chr6:149638868-149638882 chr6:149638667-149638689 chr6:149638663-149638672
41	ZMIZ1	chr6:149638020-149638858	K562	blood:	n/a	n/a
42	TEAD4	chr6:149638042-149639194	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr6:149637806-149638933	U87	brain:	n/a	n/a
44	CREB1	chr6:149638064-149638729	A549	lung:	n/a	n/a
45	POLR2A	chr6:149637955-149639375	K562	blood:	n/a	n/a
46	SIN3AK20	chr6:149637944-149639482	MCF-7	breast:	n/a	n/a
47	NRF1	chr6:149637986-149638694	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:149637946-149638948	HCT-116	colon:	n/a	n/a
49	POLR2A	chr6:149638050-149638917	ECC-1	luminal epithelium:	n/a	n/a
50	TAF1	chr6:149637879-149638761	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:149638041-149638091	ProgFib	skin:	n/a
2	chr6:149638041-149638091	Hela-S3	cervix:	n/a
3	chr6:149638041-149638091	SKMC	muscle:	n/a
4	chr6:149638041-149638091	K562	blood:	n/a
5	chr6:149638041-149638091	T-47D	breast:	n/a
6	chr6:149638041-149638091	MCF10A-Er-Src	breast:	n/a
7	chr6:149638041-149638091	AG04450	lung:	fetal
8	chr6:149638041-149638091	H1-hESC	embryonic stem cell:	embryo
9	chr6:149638041-149638091	ovcar-3	ovarian:	n/a
10	chr6:149638041-149638091	SAEC	small airway:	n/a
11	chr6:149638041-149638091	GM12892	blood:	n/a
12	chr6:149638041-149638091	HCT-116	colon:	n/a
13	chr6:149638041-149638091	GM12878	blood:	n/a
14	chr6:149638041-149638091	NT2-D1	testis:	n/a
15	chr6:149638041-149638091	MCF-7	breast:	n/a
16	chr6:149638041-149638091	HL-60	blood:	n/a
17	chr6:149638041-149638091	CMK	blood:	n/a
18	chr6:149638041-149638091	GM06990	blood:	n/a
19	chr6:149638041-149638091	PFSK-1	brain:	n/a
20	chr6:149638041-149638091	RPTEC	kidney:	n/a
21	chr6:149638041-149638091	HIPEpiC	eye:	n/a
22	chr6:149638041-149638091	HRE	kidney:	n/a
23	chr6:149638041-149638091	BJ	skin:	n/a
24	chr6:149638041-149638091	NB4	blood:	n/a
25	chr6:149638041-149638091	BE2_C	brain:	n/a
26	chr6:149638041-149638091	HEK293	kidney:	embryo
27	chr6:149638041-149638091	NHBE	bronchial:	n/a
28	chr6:149638041-149638091	A549	lung:	n/a
29	chr6:149638041-149638091	NH-A	brain:	n/a
30	chr6:149638041-149638091	U87	brain:	n/a
31	chr6:149638041-149638091	HAEpiC	amniotic membrane:	n/a
32	chr6:149638041-149638091	IMR90	lung:	fetal
33	chr6:149638041-149638091	HEEpiC	esophagus:	n/a
34	chr6:149638041-149638091	GM12891	blood:	n/a
35	chr6:149638041-149638091	HNPCEpiC	eye:	n/a
36	chr6:149638041-149638091	SK-N-SH_RA	brain:	n/a
37	chr6:149638041-149638091	LNCaP	prostate:	n/a
38	chr6:149638041-149638091	PANC-1	pancreas:	n/a
39	chr6:149638041-149638091	Hepatocyte	liver:	n/a
40	chr6:149638041-149638091	AoSMC	blood vessel:	n/a
41	chr6:149638041-149638091	AG09319	gingival:	n/a
42	chr6:149638041-149638091	ECC-1	luminal epithelium:	n/a
43	chr6:149638041-149638091	AG04449	skin:	fetal
44	chr6:149638041-149638091	HUVEC	blood vessel:	n/a
45	chr6:149638041-149638091	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:149638041-149638091	AG10803	skin:	n/a
47	chr6:149638041-149638091	HMEC	breast:	n/a
48	chr6:149638041-149638091	HRPEpiC	eye:	n/a
49	chr6:149638041-149638091	PrEC	prostate:	n/a
50	chr6:149638041-149638091	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:149349779..149353985-chr6:149637379..149639962,5	MCF-7	breast:
2	chr6:149637077..149638837-chr6:149727129..149729209,2	K562	blood:
3	chr6:149557890..149560221-chr6:149637001..149638608,2	MCF-7	breast:
4	chr6:149409902..149411675-chr6:149636224..149638635,2	K562	blood:
5	chr6:149406954..149409794-chr6:149636560..149638477,3	MCF-7	breast:
6	chr6:149636797..149639661-chr6:149663144..149666590,3	K562	blood:
7	chr6:149397256..149399835-chr6:149636593..149638648,2	MCF-7	breast:
8	chr6:149516981..149518503-chr6:149637137..149638798,2	MCF-7	breast:
9	chr6:149625453..149629470-chr6:149636058..149640474,5	MCF-7	breast:
10	chr4:174090099..174090929-chr6:149638008..149638852,2	NB4	blood:
11	chr6:149636340..149638301-chr6:150416961..150418644,2	K562	blood:

Variant related genes	Relation type
TAB2	TF binding region
TAB2	CpG island
ENSG00000216265	Chromatin interaction
ENSG00000055208	Chromatin interaction
ENSG00000236591	Chromatin interaction
ENSG00000245213	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

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	chr6:149637400-149638200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:149637400-149638400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:149637400-149639600	Active TSS	Fetal Muscle Leg	muscle
12	chr6:149637400-149639600	Active TSS	Psoas Muscle	Psoas
13	chr6:149637400-149639800	Active TSS	Thymus	Thymus
14	chr6:149637400-149640200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:149637400-149640400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:149637400-149640400	Active TSS	Right Ventricle	heart
17	chr6:149637400-149640400	Active TSS	Hela-S3	cervix
18	chr6:149637400-149640600	Active TSS	NHDF-Ad	bronchial
19	chr6:149637400-149640800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:149637400-149640800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:149637400-149640800	Active TSS	Brain Cingulate Gyrus	brain
22	chr6:149637400-149640800	Active TSS	Fetal Stomach	stomach
23	chr6:149637400-149641000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:149637400-149641200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr6:149637400-149641200	Active TSS	Brain Angular Gyrus	brain
26	chr6:149637400-149641200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:149637400-149641200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:149637400-149641200	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:149637400-149641200	Active TSS	HSMMtube	muscle
30	chr6:149637400-149641200	Active TSS	NH-A	brain
31	chr6:149637400-149641600	Active TSS	Brain Substantia Nigra	brain
32	chr6:149637400-149642000	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr6:149637400-149642600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:149637600-149639600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:149637600-149639600	Active TSS	Fetal Lung	lung
36	chr6:149637600-149639800	Active TSS	Duodenum Mucosa	Duodenum
37	chr6:149637600-149640200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:149637600-149640200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:149637600-149640200	Active TSS	Brain Germinal Matrix	brain
40	chr6:149637600-149640200	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr6:149637600-149640400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr6:149637600-149640400	Active TSS	Fetal Intestine Small	intestine
43	chr6:149637600-149640400	Active TSS	Fetal Muscle Trunk	muscle
44	chr6:149637600-149640600	Active TSS	Colonic Mucosa	Colon
45	chr6:149637600-149640800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:149637600-149640800	Active TSS	Brain Hippocampus Middle	brain
47	chr6:149637600-149640800	Active TSS	Colon Smooth Muscle	Colon
48	chr6:149637600-149640800	Active TSS	Ovary	ovary
49	chr6:149637600-149640800	Active TSS	Rectal Smooth Muscle	rectum
50	chr6:149637600-149640800	Active TSS	HSMM	muscle

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