Variant report

Variant	rs77090747
Chromosome Location	chr6:12009562-12009563
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:214)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:214 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:12009417-12009951	GM12891	blood:	n/a	n/a
2	ZMIZ1	chr6:12008264-12009836	K562	blood:	n/a	n/a
3	TEAD4	chr6:12008221-12009775	K562	blood:	n/a	n/a
4	BHLHE40	chr6:12008368-12009828	GM12878	blood:	n/a	chr6:12009310-12009326
5	POLR2A	chr6:12009429-12009710	HepG2	liver:	n/a	n/a
6	MAX	chr6:12008711-12009572	A549	lung:	n/a	chr6:12009161-12009170
7	MAX	chr6:12008484-12009867	Hela-S3	cervix:	n/a	chr6:12009161-12009170
8	MAX	chr6:12008442-12009754	A549	lung:	n/a	chr6:12009161-12009170
9	POLR2A	chr6:12008400-12011637	K562	blood:	n/a	n/a
10	HCFC1	chr6:12008484-12009740	K562	blood:	n/a	n/a
11	POLR2A	chr6:12008545-12013822	GM18951	blood:	n/a	n/a
12	POLR2A	chr6:12008481-12009757	GM18526	blood:	n/a	n/a
13	POLR2A	chr6:12008516-12013922	GM19193	blood:	n/a	n/a
14	PAX5	chr6:12009088-12009626	GM12892	blood:	n/a	n/a
15	MAX	chr6:12008501-12009865	K562	blood:	n/a	chr6:12009161-12009170
16	MXI1	chr6:12008646-12009889	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:12008529-12009874	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:12008475-12009815	Hela-S3	cervix:	n/a	n/a
20	TAF1	chr6:12008489-12009814	GM12878	blood:	n/a	n/a
21	CCNT2	chr6:12008406-12009802	K562	blood:	n/a	n/a
22	TCF12	chr6:12008535-12009612	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr6:12007783-12012797	K562	blood:	n/a	n/a
24	EGR1	chr6:12008713-12009583	GM12878	blood:	n/a	n/a
25	TBP	chr6:12009556-12011615	GM12878	blood:	n/a	n/a
26	TEAD4	chr6:12008773-12009785	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr6:12008239-12015396	IMR90	lung:	n/a	n/a
28	EBF1	chr6:12008766-12009881	GM12878	blood:	n/a	chr6:12009624-12009635
29	TAF1	chr6:12008632-12009654	HepG2	liver:	n/a	n/a
30	CHD2	chr6:12008467-12009691	Hela-S3	cervix:	n/a	n/a
31	SMARCB1	chr6:12008640-12010131	Hela-S3	cervix:	n/a	n/a
32	POU2F2	chr6:12008452-12009923	GM12878	blood:	n/a	chr6:12009312-12009324
33	POLR2A	chr6:12007820-12009828	K562	blood:	n/a	n/a
34	POLR2A	chr6:12009457-12009697	HepG2	liver:	n/a	n/a
35	MAZ	chr6:12008275-12009889	K562	blood:	n/a	chr6:12009161-12009170
36	POLR2A	chr6:12008539-12009721	MCF-7	breast:	n/a	n/a
37	POLR2A	chr6:12008438-12009803	K562	blood:	n/a	n/a
38	EBF1	chr6:12008766-12009692	GM12878	blood:	n/a	chr6:12009624-12009635
39	RCOR1	chr6:12008511-12009786	HepG2	liver:	n/a	n/a
40	ZBTB7A	chr6:12009052-12009728	K562	blood:	n/a	n/a
41	CHD1	chr6:12008671-12011506	GM12878	blood:	n/a	n/a
42	MYC	chr6:12009081-12009680	K562	blood:	n/a	chr6:12009161-12009170
43	EGR1	chr6:12009430-12009764	ECC-1	luminal epithelium:	n/a	n/a
44	BHLHE40	chr6:12008611-12009779	HepG2	liver:	n/a	chr6:12009310-12009326
45	JUN	chr6:12008032-12009732	K562	blood:	n/a	n/a
46	GATA3	chr6:12008536-12009612	A549	lung:	n/a	n/a
47	POLR2A	chr6:12007858-12013838	Hela-S3	cervix:	n/a	n/a
48	MYC	chr6:12008740-12009717	HepG2	liver:	n/a	chr6:12009161-12009170
49	MTA3	chr6:12009555-12011567	GM12878	blood:	n/a	n/a
50	POLR2A	chr6:12009383-12011763	GM12891	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46237768..46238593-chr6:12009330..12009875,2	Hela-S3	cervix:
2	chr6:11873602..11875677-chr6:12009027..12011838,2	K562	blood:
3	chr6:11990947..11994181-chr6:12007149..12010077,3	K562	blood:
4	chr6:11804488..11807450-chr6:12008603..12011488,3	MCF-7	breast:
5	chr6:11935076..11937337-chr6:12009000..12010923,2	K562	blood:
6	chr6:11766846..11771135-chr6:12008831..12011747,3	K562	blood:
7	chr6:11865768..11868889-chr6:12009325..12011874,3	K562	blood:
8	chr6:11916741..11918485-chr6:12009414..12011071,2	K562	blood:
9	chr6:12008844..12009838-chr7:134854735..134855590,2	Hela-S3	cervix:
10	chr6:12009134..12010743-chr6:12145646..12148619,2	MCF-7	breast:
11	chr6:11865768..11869319-chr6:12009325..12011874,4	K562	blood:
12	chr6:12009262..12013340-chr6:12286174..12290698,6	MCF-7	breast:
13	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:
14	chr6:11922704..11924727-chr6:12009251..12011603,2	K562	blood:

No data

Variant related genes	Relation type
HIVEP1	TF binding region
ENSG00000122783	Chromatin interaction
ENSG00000078401	Chromatin interaction
ENSG00000111863	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000225102	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	nsv970323	chr6:12006884-12020375	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv10446	chr6:12008060-12013799	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv12680	chr6:12009115-12009764	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	16 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	chr6:12007400-12013400	Active TSS	K562	blood
2	chr6:12007800-12009800	Active TSS	Liver	Liver
3	chr6:12007800-12009800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr6:12007800-12009800	Bivalent/Poised TSS	HepG2	liver
5	chr6:12007800-12011400	Active TSS	Fetal Muscle Trunk	muscle
6	chr6:12008000-12014000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:12008200-12009800	Active TSS	Fetal Intestine Large	intestine
8	chr6:12008200-12010200	Active TSS	A549	lung
9	chr6:12008200-12010600	Active TSS	Fetal Muscle Leg	muscle
10	chr6:12008200-12014000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:12008400-12009600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:12008400-12009600	Active TSS	Brain Cingulate Gyrus	brain
13	chr6:12008400-12009600	Active TSS	Left Ventricle	heart
14	chr6:12008400-12009800	Active TSS	Pancreas	Pancrea
15	chr6:12008400-12010000	Active TSS	Brain Anterior Caudate	brain
16	chr6:12008400-12010000	Active TSS	Stomach Smooth Muscle	stomach
17	chr6:12008400-12010000	Active TSS	HSMMtube	muscle
18	chr6:12008400-12010800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:12008400-12010800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr6:12008400-12011400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr6:12008400-12011600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:12008400-12013600	Active TSS	Psoas Muscle	Psoas
23	chr6:12008400-12013800	Active TSS	Right Ventricle	heart
24	chr6:12008400-12014200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:12008600-12009600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:12008600-12009600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:12008600-12009600	Active TSS	Fetal Heart	heart
28	chr6:12008600-12009800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:12008600-12009800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:12008600-12009800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:12008600-12009800	Active TSS	Brain Substantia Nigra	brain
32	chr6:12008600-12009800	Active TSS	Esophagus	oesophagus
33	chr6:12008600-12009800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:12008600-12009800	Active TSS	Gastric	stomach
35	chr6:12008600-12009800	Active TSS	Ovary	ovary
36	chr6:12008600-12009800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr6:12008600-12009800	Active TSS	Stomach Mucosa	stomach
38	chr6:12008600-12009800	Active TSS	Spleen	Spleen
39	chr6:12008600-12010000	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr6:12008600-12010000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:12008600-12010200	Active TSS	Brain Angular Gyrus	brain
42	chr6:12008600-12011400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr6:12008600-12011800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:12008600-12014000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:12008600-12014000	Active TSS	Colonic Mucosa	Colon
46	chr6:12008600-12014200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:12008600-12014400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:12008600-12014400	Active TSS	Aorta	Aorta
49	chr6:12008800-12009600	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:12008800-12009600	Active TSS	HUES6 Cell Line	embryonic stem cell

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