Variant report

Variant	rs544658293
Chromosome Location	chr6:12009181-12009182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:401)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr6:12009037-12009537	PANC-1	pancreas:	n/a	n/a
2	PAX5	chr6:12008554-12009457	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:12009005-12009525	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr6:12009122-12009394	HepG2	liver:	n/a	n/a
5	ZMIZ1	chr6:12008264-12009836	K562	blood:	n/a	n/a
6	STAT5A	chr6:12008337-12009358	GM12878	blood:	n/a	n/a
7	TEAD4	chr6:12008221-12009775	K562	blood:	n/a	n/a
8	TCF7L2	chr6:12008006-12009276	HEK293	kidney:	n/a	chr6:12008919-12008933
9	BHLHE40	chr6:12008368-12009828	GM12878	blood:	n/a	chr6:12009310-12009326
10	MAX	chr6:12008711-12009572	A549	lung:	n/a	chr6:12009161-12009170
11	MAX	chr6:12008484-12009867	Hela-S3	cervix:	n/a	chr6:12009161-12009170
12	MAX	chr6:12008442-12009754	A549	lung:	n/a	chr6:12009161-12009170
13	ELF1	chr6:12008504-12009412	GM12878	blood:	n/a	chr6:12009309-12009321 chr6:12009261-12009273 chr6:12009268-12009280
14	TCF12	chr6:12008658-12009386	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:12009026-12009521	Gliobla	brain:	n/a	n/a
16	REST	chr6:12009067-12009266	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr6:12008400-12011637	K562	blood:	n/a	n/a
18	HCFC1	chr6:12008484-12009740	K562	blood:	n/a	n/a
19	POLR2A	chr6:12008545-12013822	GM18951	blood:	n/a	n/a
20	GTF2F1	chr6:12008676-12009298	K562	blood:	n/a	n/a
21	TRIM28	chr6:12008373-12009400	K562	blood:	n/a	n/a
22	E2F4	chr6:12008445-12009323	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:12008481-12009757	GM18526	blood:	n/a	n/a
24	POLR2A	chr6:12008516-12013922	GM19193	blood:	n/a	n/a
25	PAX5	chr6:12009088-12009626	GM12892	blood:	n/a	n/a
26	MAX	chr6:12008501-12009865	K562	blood:	n/a	chr6:12009161-12009170
27	MXI1	chr6:12008646-12009889	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:12008529-12009874	GM12878	blood:	n/a	n/a
29	GATA3	chr6:12008565-12009206	T-47D	breast:	n/a	n/a
30	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
31	RELA	chr6:12008607-12009319	GM15510	blood:	n/a	chr6:12009245-12009254 chr6:12009245-12009254
32	POLR2A	chr6:12008475-12009815	Hela-S3	cervix:	n/a	n/a
33	RELA	chr6:12008424-12009289	GM18505	blood:	n/a	chr6:12009245-12009254 chr6:12009245-12009254
34	ETS1	chr6:12008639-12009382	GM12878	blood:	n/a	n/a
35	JUND	chr6:12009008-12009415	A549	lung:	n/a	n/a
36	TAF1	chr6:12008489-12009814	GM12878	blood:	n/a	n/a
37	CCNT2	chr6:12008406-12009802	K562	blood:	n/a	n/a
38	POLR2A	chr6:12009139-12009332	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr6:12008972-12009376	ECC-1	luminal epithelium:	n/a	n/a
40	REST	chr6:12009158-12009357	K562	blood:	n/a	n/a
41	POLR2A	chr6:12008727-12009407	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr6:12009093-12009535	A549	lung:	n/a	n/a
43	POLR2A	chr6:12008496-12009441	HCT-116	colon:	n/a	n/a
44	POLR2A	chr6:12008458-12009369	SK-N-SH	brain:	n/a	n/a
45	FOXM1	chr6:12008506-12009378	GM12878	blood:	n/a	n/a
46	RFX5	chr6:12008605-12009284	HepG2	liver:	n/a	n/a
47	EP300	chr6:12008587-12009316	HepG2	liver:	n/a	chr6:12009255-12009271
48	TCF12	chr6:12008535-12009612	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr6:12007783-12012797	K562	blood:	n/a	n/a
50	EGR1	chr6:12008713-12009583	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:12009163-12009213	NB4	blood:	n/a
2	chr6:12009163-12009213	GM19239	blood:	n/a
3	chr6:12009163-12009213	AoSMC	blood vessel:	n/a
4	chr6:12009163-12009213	HepG2	liver:	n/a
5	chr6:12009163-12009213	AG04449	skin:	fetal
6	chr6:12009163-12009213	MCF-7	breast:	n/a
7	chr6:12009163-12009213	MCF10A-Er-Src	breast:	n/a
8	chr6:12009163-12009213	PANC-1	pancreas:	n/a
9	chr6:12009163-12009213	HCM	heart:	n/a
10	chr6:12009163-12009213	HCPEpiC	choroid plexus:	n/a
11	chr6:12009163-12009213	T-47D	breast:	n/a
12	chr6:12009163-12009213	Hela-S3	cervix:	n/a
13	chr6:12009163-12009213	Hepatocyte	liver:	n/a
14	chr6:12009163-12009213	CMK	blood:	n/a
15	chr6:12009163-12009213	SAEC	small airway:	n/a
16	chr6:12009163-12009213	HEK293	kidney:	embryo
17	chr6:12009163-12009213	ovcar-3	ovarian:	n/a
18	chr6:12009163-12009213	GM12892	blood:	n/a
19	chr6:12009163-12009213	AG04450	lung:	fetal
20	chr6:12009163-12009213	SKMC	muscle:	n/a
21	chr6:12009163-12009213	PFSK-1	brain:	n/a
22	chr6:12009163-12009213	A549	lung:	n/a
23	chr6:12009163-12009213	BE2_C	brain:	n/a
24	chr6:12009163-12009213	K562	blood:	n/a
25	chr6:12009163-12009213	H1-hESC	embryonic stem cell:	embryo
26	chr6:12009163-12009213	HEEpiC	esophagus:	n/a
27	chr6:12009163-12009213	Caco-2	colon:	n/a
28	chr6:12009163-12009213	HNPCEpiC	eye:	n/a
29	chr6:12009163-12009213	IMR90	lung:	fetal
30	chr6:12009163-12009213	HMEC	breast:	n/a
31	chr6:12009163-12009213	HRCEpiC	kidney:	n/a
32	chr6:12009163-12009213	HRE	kidney:	n/a
33	chr6:12009163-12009213	HCT-116	colon:	n/a
34	chr6:12009163-12009213	HIPEpiC	eye:	n/a
35	chr6:12009163-12009213	AG09319	gingival:	n/a
36	chr6:12009163-12009213	SK-N-SH_RA	brain:	n/a
37	chr6:12009163-12009213	GM12878	blood:	n/a
38	chr6:12009163-12009213	GM12891	blood:	n/a
39	chr6:12009163-12009213	NT2-D1	testis:	n/a
40	chr6:12009163-12009213	HUVEC	blood vessel:	n/a
41	chr6:12009163-12009213	RPTEC	kidney:	n/a
42	chr6:12009163-12009213	Jurkat	blood:	n/a
43	chr6:12009163-12009213	HPAEpiC	pulmonary alveolar:	n/a
44	chr6:12009163-12009213	AG10803	skin:	n/a
45	chr6:12009163-12009213	SK-N-SH	brain:	n/a
46	chr6:12009163-12009213	HL-60	blood:	n/a
47	chr6:12009163-12009213	SK-N-MC	brain:	n/a
48	chr6:12009163-12009213	ECC-1	luminal epithelium:	n/a
49	chr6:12009163-12009213	ProgFib	skin:	n/a
50	chr6:12009163-12009213	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:4475034..4475714-chr6:12008711..12009473,2	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	chr6:12008844..12009838-chr7:134854735..134855590,2	Hela-S3	cervix:
8	chr11:71791436..71791948-chr6:12009007..12009560,2	Hela-S3	cervix:
9	chr6:12009134..12010743-chr6:12145646..12148619,2	MCF-7	breast:
10	chr19:15442596..15443457-chr6:12008582..12009195,2	Hela-S3	cervix:
11	chr11:66383680..66384551-chr6:12008610..12009525,2	Hela-S3	cervix:
12	chr6:12008600..12009379-chr6:43737966..43738894,2	Hela-S3	cervix:
13	chr15:78556049..78556549-chr6:12008716..12009219,2	Hela-S3	cervix:
14	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:

No data

Variant related genes	Relation type
HIVEP1	TF binding region
HIVEP1	CpG island
ENSG00000259708	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000141867	Chromatin interaction
ENSG00000225102	Chromatin interaction
ENSG00000111863	Chromatin interaction
ENSG00000262246	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000122783	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000140403	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000184154	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	chr6:12008200-12009200	Flanking Active TSS	HMEC	breast
8	chr6:12008200-12009800	Active TSS	Fetal Intestine Large	intestine
9	chr6:12008200-12010200	Active TSS	A549	lung
10	chr6:12008200-12010600	Active TSS	Fetal Muscle Leg	muscle
11	chr6:12008200-12014000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:12008400-12009600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:12008400-12009600	Active TSS	Brain Cingulate Gyrus	brain
14	chr6:12008400-12009600	Active TSS	Left Ventricle	heart
15	chr6:12008400-12009800	Active TSS	Pancreas	Pancrea
16	chr6:12008400-12010000	Active TSS	Brain Anterior Caudate	brain
17	chr6:12008400-12010000	Active TSS	Stomach Smooth Muscle	stomach
18	chr6:12008400-12010000	Active TSS	HSMMtube	muscle
19	chr6:12008400-12010800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:12008400-12010800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr6:12008400-12011400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr6:12008400-12011600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr6:12008400-12013600	Active TSS	Psoas Muscle	Psoas
24	chr6:12008400-12013800	Active TSS	Right Ventricle	heart
25	chr6:12008400-12014200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:12008600-12009200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:12008600-12009600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:12008600-12009600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr6:12008600-12009600	Active TSS	Fetal Heart	heart
30	chr6:12008600-12009800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:12008600-12009800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:12008600-12009800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:12008600-12009800	Active TSS	Brain Substantia Nigra	brain
34	chr6:12008600-12009800	Active TSS	Esophagus	oesophagus
35	chr6:12008600-12009800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:12008600-12009800	Active TSS	Gastric	stomach
37	chr6:12008600-12009800	Active TSS	Ovary	ovary
38	chr6:12008600-12009800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr6:12008600-12009800	Active TSS	Stomach Mucosa	stomach
40	chr6:12008600-12009800	Active TSS	Spleen	Spleen
41	chr6:12008600-12010000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr6:12008600-12010000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:12008600-12010200	Active TSS	Brain Angular Gyrus	brain
44	chr6:12008600-12011400	Active TSS	Placenta Amnion	Placenta Amnion
45	chr6:12008600-12011800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:12008600-12014000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:12008600-12014000	Active TSS	Colonic Mucosa	Colon
48	chr6:12008600-12014200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr6:12008600-12014400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:12008600-12014400	Active TSS	Aorta	Aorta

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