Variant report

Variant	rs62426062
Chromosome Location	chr6:149637918-149637919
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	chr6:149637838-149638751	Hela-S3	cervix:	n/a	n/a
2	FOXA1	chr6:149637761-149637930	T-47D	breast:	n/a	n/a
3	MXI1	chr6:149637889-149639401	HepG2	liver:	n/a	n/a
4	ZBTB7A	chr6:149637882-149638653	ECC-1	luminal epithelium:	n/a	n/a
5	STAT3	chr6:149637790-149637993	MCF10A-Er-Src	breast:	n/a	chr6:149637829-149637849 chr6:149637870-149637881
6	MAZ	chr6:149637125-149639723	IMR90	lung:	n/a	chr6:149639590-149639599 chr6:149639537-149639547
7	MAZ	chr6:149637726-149640212	K562	blood:	n/a	chr6:149639590-149639599 chr6:149639537-149639547
8	FOXM1	chr6:149637772-149638806	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr6:149637838-149639250	PANC-1	pancreas:	n/a	n/a
10	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
11	POLR2A	chr6:149637874-149638752	GM12891	blood:	n/a	n/a
12	POLR2A	chr6:149637876-149640263	GM18505	blood:	n/a	n/a
13	POLR2A	chr6:149637888-149638684	GM12892	blood:	n/a	n/a
14	POLR2A	chr6:149637900-149639424	HL-60	blood:	n/a	n/a
15	POLR2A	chr6:149637728-149640345	GM12878	blood:	n/a	n/a
16	CREB1	chr6:149637892-149639789	HepG2	liver:	n/a	n/a
17	RFX5	chr6:149637883-149638060	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:149637844-149639409	GM12892	blood:	n/a	n/a
19	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
20	POLR2A	chr6:149637806-149638933	U87	brain:	n/a	n/a
21	TAF1	chr6:149637879-149638761	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr6:149637894-149638074	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCLAF1	chr6:149637776-149638885	GM12878	blood:	n/a	chr6:149638863-149638876 chr6:149638416-149638429 chr6:149638127-149638136 chr6:149638655-149638668 chr6:149638658-149638671 chr6:149638660-149638669 chr6:149638240-149638249 chr6:149638441-149638454
24	MAX	chr6:149637889-149638749	K562	blood:	n/a	n/a
25	TBP	chr6:149637887-149639348	K562	blood:	n/a	n/a
26	POLR2A	chr6:149636134-149639393	K562	blood:	n/a	n/a
27	POLR2A	chr6:149637806-149638927	U87	brain:	n/a	n/a
28	HCFC1	chr6:149637917-149639197	K562	blood:	n/a	n/a
29	POLR2A	chr6:149637803-149638846	MCF10A-Er-Src	breast:	n/a	n/a
30	ZBTB7A	chr6:149637846-149639791	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr6:149637823-149638775	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:149637775-149640831	GM12892	blood:	n/a	n/a
33	TBL1XR1	chr6:149637834-149638654	K562	blood:	n/a	n/a
34	POLR2A	chr6:149637881-149639395	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr6:149637882-149638893	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr6:149637887-149639381	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr6:149637905-149639518	H1-neurons	neurons:	n/a	n/a
38	HDAC2	chr6:149637918-149638760	HepG2	liver:	n/a	chr6:149638294-149638308 chr6:149637930-149637944
39	ZKSCAN1	chr6:149637909-149638279	Hela-S3	cervix:	n/a	n/a
40	MAZ	chr6:149637726-149640418	GM12878	blood:	n/a	chr6:149639590-149639599 chr6:149639537-149639547
41	RUNX3	chr6:149637846-149638836	GM12878	blood:	n/a	n/a
42	POLR2A	chr6:149637837-149639313	K562	blood:	n/a	n/a
43	MAX	chr6:149637873-149639537	HepG2	liver:	n/a	n/a
44	SIN3A	chr6:149637885-149638737	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3AK20	chr6:149637918-149638748	K562	blood:	n/a	n/a
46	POLR2A	chr6:149637815-149639461	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr6:149637911-149639102	H1-neurons	neurons:	n/a	n/a
48	RAD21	chr6:149637905-149638587	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:149637888-149639462	K562	blood:	n/a	n/a
50	POLR2A	chr6:149637753-149638865	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:149637881-149637931	GM12891	blood:	n/a
2	chr6:149637881-149637931	T-47D	breast:	n/a
3	chr6:149637881-149637931	SK-N-SH	brain:	n/a
4	chr6:149637881-149637931	HCM	heart:	n/a
5	chr6:149637881-149637931	SK-N-MC	brain:	n/a
6	chr6:149637881-149637931	GM06990	blood:	n/a
7	chr6:149637881-149637931	HepG2	liver:	n/a
8	chr6:149637881-149637931	PrEC	prostate:	n/a
9	chr6:149637881-149637931	CMK	blood:	n/a
10	chr6:149637881-149637931	AG09319	gingival:	n/a
11	chr6:149637881-149637931	NB4	blood:	n/a
12	chr6:149637881-149637931	K562	blood:	n/a
13	chr6:149637881-149637931	PFSK-1	brain:	n/a
14	chr6:149637881-149637931	HUVEC	blood vessel:	n/a
15	chr6:149637881-149637931	Hela-S3	cervix:	n/a
16	chr6:149637881-149637931	GM12892	blood:	n/a
17	chr6:149637881-149637931	AG09309	skin:	n/a
18	chr6:149637881-149637931	LNCaP	prostate:	n/a
19	chr6:149637881-149637931	U87	brain:	n/a
20	chr6:149637881-149637931	MCF-7	breast:	n/a
21	chr6:149637881-149637931	ECC-1	luminal epithelium:	n/a
22	chr6:149637881-149637931	HEK293	kidney:	embryo
23	chr6:149637881-149637931	RPTEC	kidney:	n/a
24	chr6:149637881-149637931	ProgFib	skin:	n/a
25	chr6:149637881-149637931	SK-N-SH_RA	brain:	n/a
26	chr6:149637881-149637931	HNPCEpiC	eye:	n/a
27	chr6:149637881-149637931	GM12878	blood:	n/a
28	chr6:149637881-149637931	HRCEpiC	kidney:	n/a
29	chr6:149637881-149637931	AG10803	skin:	n/a
30	chr6:149637881-149637931	HL-60	blood:	n/a
31	chr6:149637881-149637931	NHDF-neo	bronchial:	n/a
32	chr6:149637881-149637931	HEEpiC	esophagus:	n/a
33	chr6:149637881-149637931	Caco-2	colon:	n/a
34	chr6:149637881-149637931	HIPEpiC	eye:	n/a
35	chr6:149637881-149637931	NHBE	bronchial:	n/a
36	chr6:149637881-149637931	HRPEpiC	eye:	n/a
37	chr6:149637881-149637931	ovcar-3	ovarian:	n/a
38	chr6:149637881-149637931	PANC-1	pancreas:	n/a
39	chr6:149637881-149637931	HRE	kidney:	n/a
40	chr6:149637881-149637931	HAEpiC	amniotic membrane:	n/a
41	chr6:149637881-149637931	GM19239	blood:	n/a
42	chr6:149637881-149637931	Jurkat	blood:	n/a
43	chr6:149637881-149637931	HCF	heart:	n/a
44	chr6:149637881-149637931	A549	lung:	n/a
45	chr6:149637881-149637931	SKMC	muscle:	n/a
46	chr6:149637881-149637931	NH-A	brain:	n/a
47	chr6:149637881-149637931	AG04450	lung:	fetal
48	chr6:149637881-149637931	Hepatocyte	liver:	n/a
49	chr6:149637881-149637931	HCT-116	colon:	n/a
50	chr6:149637881-149637931	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:149349779..149353985-chr6:149637379..149639962,5	MCF-7	breast:
2	chr6:149635359..149638022-chr6:149700186..149702826,2	K562	blood:
3	chr6:149637077..149638837-chr6:149727129..149729209,2	K562	blood:
4	chr6:149557890..149560221-chr6:149637001..149638608,2	MCF-7	breast:
5	chr6:149409902..149411675-chr6:149636224..149638635,2	K562	blood:
6	chr6:149406954..149409794-chr6:149636560..149638477,3	MCF-7	breast:
7	chr6:149636797..149639661-chr6:149663144..149666590,3	K562	blood:
8	chr6:149397256..149399835-chr6:149636593..149638648,2	MCF-7	breast:
9	chr6:149516981..149518503-chr6:149637137..149638798,2	MCF-7	breast:
10	chr6:149625453..149629470-chr6:149636058..149640474,5	MCF-7	breast:
11	chr6:149636340..149638301-chr6:150416961..150418644,2	K562	blood:

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:126 , 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	chr6:149637400-149638000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr6:149637400-149638000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr6:149637400-149638000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:149637400-149638000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr6:149637400-149638000	Flanking Active TSS	Dnd41	blood
14	chr6:149637400-149638200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:149637400-149638400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:149637400-149639600	Active TSS	Fetal Muscle Leg	muscle
17	chr6:149637400-149639600	Active TSS	Psoas Muscle	Psoas
18	chr6:149637400-149639800	Active TSS	Thymus	Thymus
19	chr6:149637400-149640200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:149637400-149640400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr6:149637400-149640400	Active TSS	Right Ventricle	heart
22	chr6:149637400-149640400	Active TSS	Hela-S3	cervix
23	chr6:149637400-149640600	Active TSS	NHDF-Ad	bronchial
24	chr6:149637400-149640800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr6:149637400-149640800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:149637400-149640800	Active TSS	Brain Cingulate Gyrus	brain
27	chr6:149637400-149640800	Active TSS	Fetal Stomach	stomach
28	chr6:149637400-149641000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:149637400-149641200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr6:149637400-149641200	Active TSS	Brain Angular Gyrus	brain
31	chr6:149637400-149641200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:149637400-149641200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr6:149637400-149641200	Active TSS	Stomach Smooth Muscle	stomach
34	chr6:149637400-149641200	Active TSS	HSMMtube	muscle
35	chr6:149637400-149641200	Active TSS	NH-A	brain
36	chr6:149637400-149641600	Active TSS	Brain Substantia Nigra	brain
37	chr6:149637400-149642000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr6:149637400-149642600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:149637600-149638000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr6:149637600-149638000	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr6:149637600-149638000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr6:149637600-149638000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:149637600-149638000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr6:149637600-149638000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:149637600-149638000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr6:149637600-149638000	Flanking Active TSS	Liver	Liver
47	chr6:149637600-149638000	Flanking Active TSS	Fetal Brain Male	brain
48	chr6:149637600-149638000	Flanking Active TSS	Fetal Brain Female	brain
49	chr6:149637600-149638000	Active TSS	Fetal Heart	heart
50	chr6:149637600-149638000	Flanking Active TSS	Fetal Thymus	thymus

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