Variant report

Variant	rs113576155
Chromosome Location	chr6:12012070-12012071
allele	C/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	EGR1	chr6:12011101-12012668	K562	blood:	n/a	chr6:12011821-12011835
2	POLR2A	chr6:12011102-12012133	HCT-116	colon:	n/a	n/a
3	EBF1	chr6:12010483-12012310	GM12878	blood:	n/a	chr6:12010667-12010677
4	TCF12	chr6:12010979-12012135	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr6:12011550-12012418	PFSK-1	brain:	n/a	n/a
6	MAZ	chr6:12010903-12013983	IMR90	lung:	n/a	chr6:12012886-12012896 chr6:12013443-12013453 chr6:12013078-12013088
7	JUND	chr6:12010678-12012189	K562	blood:	n/a	chr6:12011448-12011460 chr6:12011036-12011050 chr6:12011569-12011578
8	POLR2A	chr6:12010105-12013773	GM18526	blood:	n/a	n/a
9	RAD21	chr6:12011506-12012099	K562	blood:	n/a	n/a
10	POLR2A	chr6:12008545-12013822	GM18951	blood:	n/a	n/a
11	POLR2A	chr6:12008516-12013922	GM19193	blood:	n/a	n/a
12	TBP	chr6:12010743-12012679	K562	blood:	n/a	n/a
13	POLR2A	chr6:12011598-12013918	ProgFib	skin:	n/a	n/a
14	CREB1	chr6:12011034-12012367	HepG2	liver:	n/a	chr6:12011567-12011580
15	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
16	UBTF	chr6:12010585-12013855	K562	blood:	n/a	n/a
17	TAF7	chr6:12011855-12012132	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr6:12011788-12012080	GM12878	blood:	n/a	chr6:12012011-12012025 chr6:12012014-12012028 chr6:12012036-12012050
19	RELA	chr6:12010383-12012385	GM19193	blood:	n/a	chr6:12011487-12011496 chr6:12011487-12011496
20	POLR2A	chr6:12007783-12012797	K562	blood:	n/a	n/a
21	TCF3	chr6:12011801-12012079	GM12878	blood:	n/a	n/a
22	ZNF143	chr6:12011091-12012376	GM12878	blood:	n/a	chr6:12012018-12012028
23	TEAD4	chr6:12011035-12012390	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr6:12008239-12015396	IMR90	lung:	n/a	n/a
25	POLR2A	chr6:12011459-12013570	GM12878	blood:	n/a	n/a
26	CREB1	chr6:12010970-12012413	GM12878	blood:	n/a	chr6:12011567-12011580
27	RELA	chr6:12010519-12012437	GM12891	blood:	n/a	chr6:12011487-12011496 chr6:12011487-12011496
28	MAX	chr6:12011047-12012417	NB4	blood:	n/a	n/a
29	GATA3	chr6:12010904-12012363	SK-N-SH	brain:	n/a	n/a
30	MAX	chr6:12010895-12012793	K562	blood:	n/a	n/a
31	EGR1	chr6:12011897-12012341	GM12878	blood:	n/a	n/a
32	CCNT2	chr6:12010985-12013520	K562	blood:	n/a	chr6:12011547-12011556 chr6:12013311-12013320
33	YY1	chr6:12010961-12012088	HepG2	liver:	n/a	chr6:12012011-12012025 chr6:12012014-12012028 chr6:12012036-12012050
34	HEY1	chr6:12011878-12012080	HepG2	liver:	n/a	chr6:12012032-12012047 chr6:12012018-12012033 chr6:12012012-12012027
35	EGR1	chr6:12012017-12012364	HCT-116	colon:	n/a	n/a
36	JUND	chr6:12011502-12012164	A549	lung:	n/a	chr6:12011569-12011578
37	POLR2A	chr6:12010716-12012719	K562	blood:	n/a	n/a
38	HDAC2	chr6:12011384-12012343	K562	blood:	n/a	n/a
39	TAF1	chr6:12010608-12012070	GM12878	blood:	n/a	n/a
40	EGR1	chr6:12011354-12012345	GM12878	blood:	n/a	chr6:12011821-12011835
41	POLR2A	chr6:12011439-12012364	HUVEC	blood vessel:	n/a	n/a
42	SP1	chr6:12010836-12012074	GM12878	blood:	n/a	chr6:12011546-12011558 chr6:12011632-12011644 chr6:12011547-12011557 chr6:12011393-12011407 chr6:12011546-12011557 chr6:12011548-12011557 chr6:12011543-12011557 chr6:12011547-12011557 chr6:12011633-12011642 chr6:12011521-12011532 chr6:12011547-12011556 chr6:12011393-12011402 chr6:12011548-12011557 chr6:12011632-12011644 chr6:12011546-12011558
43	POLR2A	chr6:12011790-12012093	GM12891	blood:	n/a	n/a
44	POLR2A	chr6:12007858-12013838	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr6:12011735-12013573	MCF-7	breast:	n/a	n/a
46	POLR2A	chr6:12012050-12013870	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr6:12010517-12015551	HepG2	liver:	n/a	n/a
48	MAZ	chr6:12010623-12013941	K562	blood:	n/a	chr6:12012886-12012896 chr6:12013443-12013453 chr6:12013078-12013088
49	BHLHE40	chr6:12010710-12012448	GM12878	blood:	n/a	chr6:12012009-12012025
50	EGR1	chr6:12011505-12012847	K562	blood:	n/a	chr6:12011821-12011835

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:12012057-12012107	BJ	skin:	n/a
2	chr6:12012057-12012107	SK-N-SH	brain:	n/a
3	chr6:12012057-12012107	MCF-7	breast:	n/a
4	chr6:12012057-12012107	AG09309	skin:	n/a
5	chr6:12012057-12012107	HUVEC	blood vessel:	n/a
6	chr6:12012057-12012107	SAEC	small airway:	n/a
7	chr6:12012057-12012107	Jurkat	blood:	n/a
8	chr6:12012057-12012107	HEEpiC	esophagus:	n/a
9	chr6:12012057-12012107	HRPEpiC	eye:	n/a
10	chr6:12012057-12012107	T-47D	breast:	n/a
11	chr6:12012057-12012107	HCM	heart:	n/a
12	chr6:12012057-12012107	HepG2	liver:	n/a
13	chr6:12012057-12012107	AoSMC	blood vessel:	n/a
14	chr6:12012057-12012107	NHDF-neo	bronchial:	n/a
15	chr6:12012057-12012107	PFSK-1	brain:	n/a
16	chr6:12012057-12012107	GM12891	blood:	n/a
17	chr6:12012057-12012107	HCF	heart:	n/a
18	chr6:12012057-12012107	Hepatocyte	liver:	n/a
19	chr6:12012057-12012107	NB4	blood:	n/a
20	chr6:12012057-12012107	AG09319	gingival:	n/a
21	chr6:12012057-12012107	GM06990	blood:	n/a
22	chr6:12012057-12012107	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:12012057-12012107	Caco-2	colon:	n/a
24	chr6:12012057-12012107	AG10803	skin:	n/a
25	chr6:12012057-12012107	IMR90	lung:	fetal
26	chr6:12012057-12012107	HCT-116	colon:	n/a
27	chr6:12012057-12012107	U87	brain:	n/a
28	chr6:12012057-12012107	Hela-S3	cervix:	n/a
29	chr6:12012057-12012107	SKMC	muscle:	n/a
30	chr6:12012057-12012107	MCF10A-Er-Src	breast:	n/a
31	chr6:12012057-12012107	ovcar-3	ovarian:	n/a
32	chr6:12012057-12012107	ProgFib	skin:	n/a
33	chr6:12012057-12012107	NHBE	bronchial:	n/a
34	chr6:12012057-12012107	BE2_C	brain:	n/a
35	chr6:12012057-12012107	GM12878	blood:	n/a
36	chr6:12012057-12012107	GM12892	blood:	n/a
37	chr6:12012057-12012107	SK-N-SH_RA	brain:	n/a
38	chr6:12012057-12012107	NT2-D1	testis:	n/a
39	chr6:12012057-12012107	HRCEpiC	kidney:	n/a
40	chr6:12012057-12012107	HL-60	blood:	n/a
41	chr6:12012057-12012107	CMK	blood:	n/a
42	chr6:12012057-12012107	HCPEpiC	choroid plexus:	n/a
43	chr6:12012057-12012107	HNPCEpiC	eye:	n/a
44	chr6:12012057-12012107	AG04450	lung:	fetal
45	chr6:12012057-12012107	RPTEC	kidney:	n/a
46	chr6:12012057-12012107	A549	lung:	n/a
47	chr6:12012057-12012107	K562	blood:	n/a
48	chr6:12012057-12012107	HIPEpiC	eye:	n/a
49	chr6:12012057-12012107	SK-N-MC	brain:	n/a
50	chr6:12012057-12012107	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:12009789..12012137-chr6:12043704..12046977,3	MCF-7	breast:
2	chr6:11990522..11992970-chr6:12011349..12014154,2	MCF-7	breast:
3	chr6:11766943..11769804-chr6:12011580..12013984,2	MCF-7	breast:
4	chr6:11880134..11882606-chr6:12009831..12012097,2	K562	blood:
5	chr6:11990349..11993299-chr6:12011133..12012920,2	MCF-7	breast:
6	chr6:12010419..12012181-chr6:12045001..12046641,2	K562	blood:
7	chr6:11766544..11768808-chr6:12011516..12013304,2	MCF-7	breast:
8	chr6:12009898..12015137-chr6:12286715..12292291,9	MCF-7	breast:
9	chr6:12009262..12013340-chr6:12286174..12290698,6	MCF-7	breast:

Variant related genes	Relation type
HIVEP1	TF binding region
HIVEP1	CpG island
ENSG00000078401	Chromatin interaction
ENSG00000111863	Chromatin interaction
ENSG00000225102	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	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	esv3340023	chr6:12010391-12013339	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3325502	chr6:12010691-12013714	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv3388541	chr6:12011066-12013514	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3327745	chr6:12011191-12014339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 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	chr6:12007400-12013400	Active TSS	K562	blood
2	chr6:12008000-12014000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:12008200-12014000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:12008400-12013600	Active TSS	Psoas Muscle	Psoas
5	chr6:12008400-12013800	Active TSS	Right Ventricle	heart
6	chr6:12008400-12014200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:12008600-12014000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:12008600-12014000	Active TSS	Colonic Mucosa	Colon
9	chr6:12008600-12014200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr6:12008600-12014400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:12008600-12014400	Active TSS	Aorta	Aorta
12	chr6:12008800-12013600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:12008800-12013800	Active TSS	NHEK	skin
14	chr6:12008800-12014400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:12009000-12013000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:12009600-12013000	Active TSS	Right Atrium	heart
17	chr6:12010400-12013800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:12010600-12013600	Active TSS	HSMM	muscle
19	chr6:12010600-12013800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:12010600-12013800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:12010600-12013800	Active TSS	Left Ventricle	heart
22	chr6:12010600-12013800	Active TSS	Lung	lung
23	chr6:12010600-12013800	Active TSS	NHDF-Ad	bronchial
24	chr6:12010600-12014000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:12010600-12014000	Active TSS	Ovary	ovary
26	chr6:12010600-12014200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr6:12010600-12014400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:12010800-12013600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:12010800-12013600	Active TSS	Brain Angular Gyrus	brain
30	chr6:12010800-12013600	Active TSS	Fetal Intestine Small	intestine
31	chr6:12010800-12013600	Active TSS	Pancreas	Pancrea
32	chr6:12010800-12013600	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr6:12010800-12013600	Active TSS	Stomach Smooth Muscle	stomach
34	chr6:12010800-12013600	Active TSS	HMEC	breast
35	chr6:12010800-12013800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:12010800-12013800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr6:12010800-12013800	Active TSS	Esophagus	oesophagus
38	chr6:12010800-12013800	Active TSS	Small Intestine	intestine
39	chr6:12010800-12014000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:12010800-12014000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:12010800-12014000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:12010800-12014200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr6:12010800-12014200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr6:12010800-12014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:12010800-12014400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr6:12011000-12013200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr6:12011000-12013400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:12011000-12013400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr6:12011000-12013400	Active TSS	Rectal Smooth Muscle	rectum
50	chr6:12011000-12013400	Active TSS	Skeletal Muscle Male	skeletal muscle

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