Variant report

Variant	rs2772386
Chromosome Location	chr6:33421553-33421554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33421544-33422636	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:33421436-33421636	Hela-S3	cervix:	n/a	n/a
3	GATA1	chr6:33421344-33422659	PBDE	blood:	n/a	chr6:33421824-33421835 chr6:33421720-33421732 chr6:33422578-33422599 chr6:33421829-33421839 chr6:33422585-33422592 chr6:33421726-33421733 chr6:33422585-33422592 chr6:33422585-33422592 chr6:33422584-33422594
4	POLR2A	chr6:33421437-33421612	H1-hESC	embryonic stem cell:	n/a	n/a
5	IRF1	chr6:33421450-33422738	K562	blood:	n/a	chr6:33422253-33422262 chr6:33422290-33422299 chr6:33422228-33422242
6	POLR2A	chr6:33421509-33421708	U87	brain:	n/a	n/a
7	UBTF	chr6:33421446-33421624	K562	blood:	n/a	n/a
8	POLR2A	chr6:33421544-33422637	HCT-116	colon:	n/a	n/a
9	POLR2A	chr6:33420299-33422662	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr6:33421273-33424542	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr6:33421507-33422811	K562	blood:	n/a	n/a
12	POLR2A	chr6:33421495-33422680	IMR90	lung:	n/a	n/a
13	MXI1	chr6:33421139-33423543	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr6:33420325-33422797	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr6:33421456-33422610	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:33421252-33422701	PANC-1	pancreas:	n/a	n/a
17	SPI1	chr6:33421248-33421657	HL-60	blood:	n/a	n/a
18	SIN3AK20	chr6:33421373-33422897	MCF-7	breast:	n/a	n/a
19	POLR2A	chr6:33421312-33422657	PFSK-1	brain:	n/a	n/a
20	MYC	chr6:33421537-33422618	NB4	blood:	n/a	n/a
21	POLR2A	chr6:33421419-33422669	K562	blood:	n/a	n/a
22	CBX3	chr6:33421427-33422762	K562	blood:	n/a	chr6:33421765-33421776
23	MXI1	chr6:33421333-33423155	IMR90	lung:	n/a	n/a
24	CREB1	chr6:33421434-33422769	HepG2	liver:	n/a	n/a
25	POLR2A	chr6:33421276-33422658	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr6:33421359-33422689	HL-60	blood:	n/a	n/a
27	PML	chr6:33421526-33422839	K562	blood:	n/a	n/a
28	TEAD4	chr6:33421321-33422928	K562	blood:	n/a	n/a
29	HCFC1	chr6:33421311-33423096	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:33421025-33423045	K562	blood:	n/a	n/a
31	POLR2A	chr6:33421386-33422589	GM12891	blood:	n/a	n/a
32	POLR2A	chr6:33421422-33421673	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:33421254-33422650	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr6:33421260-33422654	SK-N-MC	brain:	n/a	n/a
35	JUN	chr6:33421247-33422990	K562	blood:	n/a	n/a
36	GABPA	chr6:33421478-33423029	MCF-7	breast:	n/a	chr6:33422309-33422318
37	POLR2A	chr6:33421418-33421652	HepG2	liver:	n/a	n/a
38	POLR2A	chr6:33419234-33422629	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33421509-33421559	HRE	kidney:	n/a
2	chr6:33421509-33421559	Caco-2	colon:	n/a
3	chr6:33421509-33421559	PANC-1	pancreas:	n/a
4	chr6:33421509-33421559	HEEpiC	esophagus:	n/a
5	chr6:33421509-33421559	U87	brain:	n/a
6	chr6:33421509-33421559	HMEC	breast:	n/a
7	chr6:33421509-33421559	T-47D	breast:	n/a
8	chr6:33421509-33421559	HIPEpiC	eye:	n/a
9	chr6:33421509-33421559	AG04449	skin:	fetal
10	chr6:33421509-33421559	BJ	skin:	n/a
11	chr6:33421509-33421559	GM06990	blood:	n/a
12	chr6:33421509-33421559	HEK293	kidney:	embryo
13	chr6:33421509-33421559	H1-hESC	embryonic stem cell:	embryo
14	chr6:33421509-33421559	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:33421509-33421559	SK-N-MC	brain:	n/a
16	chr6:33421509-33421559	AoSMC	blood vessel:	n/a
17	chr6:33421509-33421559	SAEC	small airway:	n/a
18	chr6:33421509-33421559	RPTEC	kidney:	n/a
19	chr6:33421509-33421559	HL-60	blood:	n/a
20	chr6:33421509-33421559	IMR90	lung:	fetal
21	chr6:33421509-33421559	HNPCEpiC	eye:	n/a
22	chr6:33421509-33421559	HRCEpiC	kidney:	n/a
23	chr6:33421509-33421559	HCPEpiC	choroid plexus:	n/a
24	chr6:33421509-33421559	HUVEC	blood vessel:	n/a
25	chr6:33421509-33421559	MCF-7	breast:	n/a
26	chr6:33421509-33421559	LNCaP	prostate:	n/a
27	chr6:33421509-33421559	HepG2	liver:	n/a
28	chr6:33421509-33421559	NHDF-neo	bronchial:	n/a
29	chr6:33421509-33421559	MCF10A-Er-Src	breast:	n/a
30	chr6:33421509-33421559	PrEC	prostate:	n/a
31	chr6:33421509-33421559	HCT-116	colon:	n/a
32	chr6:33421509-33421559	HCM	heart:	n/a
33	chr6:33421509-33421559	GM19239	blood:	n/a
34	chr6:33421509-33421559	ECC-1	luminal epithelium:	n/a
35	chr6:33421509-33421559	Hela-S3	cervix:	n/a
36	chr6:33421509-33421559	SK-N-SH_RA	brain:	n/a
37	chr6:33421509-33421559	A549	lung:	n/a
38	chr6:33421509-33421559	GM12892	blood:	n/a
39	chr6:33421509-33421559	SKMC	muscle:	n/a
40	chr6:33421509-33421559	NB4	blood:	n/a
41	chr6:33421509-33421559	AG04450	lung:	fetal
42	chr6:33421509-33421559	NH-A	brain:	n/a
43	chr6:33421509-33421559	AG09309	skin:	n/a
44	chr6:33421509-33421559	CMK	blood:	n/a
45	chr6:33421509-33421559	HRPEpiC	eye:	n/a
46	chr6:33421509-33421559	ProgFib	skin:	n/a
47	chr6:33421509-33421559	NHBE	bronchial:	n/a
48	chr6:33421509-33421559	BE2_C	brain:	n/a
49	chr6:33421509-33421559	Jurkat	blood:	n/a
50	chr6:33421509-33421559	K562	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33381847..33384907-chr6:33420236..33423106,3	MCF-7	breast:
2	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
3	chr6:33357170..33359461-chr6:33419565..33421602,2	K562	blood:
4	chr6:33392449..33400629-chr6:33419013..33424035,12	MCF-7	breast:
5	chr6:33395899..33401993-chr6:33420102..33423796,11	MCF-7	breast:
6	chr6:33245204..33246812-chr6:33420469..33423462,2	MCF-7	breast:
7	chr6:33406190..33414491-chr6:33419287..33424467,10	MCF-7	breast:
8	chr6:33398677..33403495-chr6:33419995..33423723,6	K562	blood:

No data

Variant related genes	Relation type
ZBTB9	TF binding region
ZBTB9	CpG island
ENSG00000112511	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000112514	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11759285	0.87[AFR][1000 genomes]
rs1755044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2772374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2772385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55768702	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60719642	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61421477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759963	0.81[AMR][1000 genomes]

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	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv437503	chr6:33408542-33421577	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv3341480	chr6:33418074-33422572	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3507170	chr6:33418124-33423322	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3507171	chr6:33418124-33423322	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 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	chr6:33399400-33421600	Weak transcription	Stomach Mucosa	stomach
2	chr6:33415000-33421600	Weak transcription	Aorta	Aorta
3	chr6:33416800-33421800	Weak transcription	Spleen	Spleen
4	chr6:33417600-33421600	Weak transcription	Esophagus	oesophagus
5	chr6:33420000-33421800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:33420200-33421800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:33420400-33421600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:33420600-33421600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr6:33420600-33421800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr6:33420600-33421800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:33420800-33421600	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:33420800-33421800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:33420800-33421800	Flanking Active TSS	Dnd41	blood
14	chr6:33420800-33422800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:33421000-33421600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:33421000-33421600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:33421000-33422000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:33421000-33422000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:33421000-33422800	Active TSS	Primary T cells from cord blood	blood
20	chr6:33421000-33422800	Active TSS	Hela-S3	cervix
21	chr6:33421000-33422800	Active TSS	NH-A	brain
22	chr6:33421200-33421600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:33421200-33421600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:33421200-33421600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr6:33421200-33421600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
26	chr6:33421200-33421600	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr6:33421200-33421600	Flanking Active TSS	Psoas Muscle	Psoas
28	chr6:33421200-33421600	Enhancers	Small Intestine	intestine
29	chr6:33421200-33421800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:33421200-33421800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr6:33421200-33421800	Flanking Active TSS	Fetal Thymus	thymus
32	chr6:33421200-33421800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr6:33421200-33422000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr6:33421200-33422000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr6:33421200-33422400	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr6:33421200-33422400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:33421200-33422800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:33421200-33422800	Active TSS	Right Ventricle	heart
39	chr6:33421200-33422800	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr6:33421200-33422800	Active TSS	HMEC	breast
41	chr6:33421200-33422800	Active TSS	HSMM	muscle
42	chr6:33421200-33422800	Active TSS	NHEK	skin
43	chr6:33421200-33423000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:33421200-33423000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:33421200-33423000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr6:33421200-33423200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr6:33421400-33421600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:33421400-33421600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:33421400-33421600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:33421400-33421600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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