Variant report

Variant	rs144261606
Chromosome Location	chr6:12013004-12013005
allele	C/T
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	chr6:12012484-12013587	HL-60	blood:	n/a	n/a
2	POLR2A	chr6:12012874-12013689	SK-N-MC	brain:	n/a	n/a
3	IRF1	chr6:12012954-12013831	K562	blood:	n/a	chr6:12013138-12013148 chr6:12013503-12013517 chr6:12013666-12013675 chr6:12013136-12013156 chr6:12013138-12013152
4	CEBPB	chr6:12012920-12014899	Hela-S3	cervix:	n/a	chr6:12013068-12013079 chr6:12013652-12013669
5	PAX5	chr6:12012908-12013651	GM12878	blood:	n/a	chr6:12012995-12013004
6	POLR2A	chr6:12012916-12015805	HepG2	liver:	n/a	n/a
7	MYC	chr6:12012743-12013075	MCF-7	breast:	n/a	chr6:12012886-12012896
8	MAZ	chr6:12010903-12013983	IMR90	lung:	n/a	chr6:12012886-12012896 chr6:12013443-12013453 chr6:12013078-12013088
9	POLR2A	chr6:12010105-12013773	GM18526	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	POLR2A	chr6:12012860-12013016	A549	lung:	n/a	n/a
13	POLR2A	chr6:12011598-12013918	ProgFib	skin:	n/a	n/a
14	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
15	MAX	chr6:12012888-12013681	H1-hESC	embryonic stem cell:	n/a	chr6:12013443-12013453 chr6:12013078-12013088
16	UBTF	chr6:12010585-12013855	K562	blood:	n/a	n/a
17	CEBPB	chr6:12012893-12013575	HepG2	liver:	n/a	chr6:12013068-12013079
18	POLR2A	chr6:12012489-12013586	GM12878	blood:	n/a	n/a
19	CHD2	chr6:12012950-12013897	K562	blood:	n/a	chr6:12013007-12013017 chr6:12013336-12013346
20	SIN3AK20	chr6:12012997-12013827	PFSK-1	brain:	n/a	n/a
21	MAX	chr6:12012947-12013839	GM12878	blood:	n/a	chr6:12013443-12013453 chr6:12013078-12013088
22	POLR2A	chr6:12008239-12015396	IMR90	lung:	n/a	n/a
23	POLR2A	chr6:12011459-12013570	GM12878	blood:	n/a	n/a
24	RELA	chr6:12012907-12013925	GM12891	blood:	n/a	chr6:12013493-12013502 chr6:12013493-12013502
25	TEAD4	chr6:12012892-12013964	K562	blood:	n/a	n/a
26	CEBPB	chr6:12012898-12013776	IMR90	lung:	n/a	chr6:12013068-12013079 chr6:12013652-12013669
27	ZBTB7A	chr6:12012898-12013413	K562	blood:	n/a	n/a
28	TAF1	chr6:12012922-12013695	Hela-S3	cervix:	n/a	n/a
29	BCLAF1	chr6:12012862-12013824	GM12878	blood:	n/a	chr6:12013324-12013333 chr6:12013494-12013503 chr6:12013318-12013327 chr6:12013321-12013330
30	YY1	chr6:12012485-12013408	HepG2	liver:	n/a	chr6:12013353-12013364 chr6:12013320-12013329 chr6:12013321-12013332 chr6:12013314-12013328 chr6:12012721-12012735 chr6:12012727-12012741 chr6:12012726-12012735 chr6:12013317-12013326 chr6:12013040-12013051
31	CEBPB	chr6:12012925-12013239	K562	blood:	n/a	chr6:12013068-12013079
32	CCNT2	chr6:12010985-12013520	K562	blood:	n/a	chr6:12011547-12011556 chr6:12013311-12013320
33	POLR2A	chr6:12012493-12013973	GM12891	blood:	n/a	n/a
34	SIN3AK20	chr6:12012891-12013286	HepG2	liver:	n/a	n/a
35	FOXA1	chr6:12012981-12013267	T-47D	breast:	n/a	n/a
36	EP300	chr6:12012977-12013815	GM12878	blood:	n/a	chr6:12013317-12013326
37	POLR2A	chr6:12012481-12014117	HUVEC	blood vessel:	n/a	n/a
38	MAX	chr6:12012852-12013563	K562	blood:	n/a	chr6:12012886-12012896 chr6:12013443-12013453 chr6:12013078-12013088
39	POLR2A	chr6:12012885-12013569	K562	blood:	n/a	n/a
40	TCF3	chr6:12012599-12013521	GM12878	blood:	n/a	n/a
41	ZBTB7A	chr6:12012485-12013601	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr6:12007858-12013838	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr6:12011735-12013573	MCF-7	breast:	n/a	n/a
44	POLR2A	chr6:12012145-12015603	GM12892	blood:	n/a	n/a
45	POLR2A	chr6:12012050-12013870	H1-neurons	neurons:	n/a	n/a
46	TBP	chr6:12012974-12013792	HepG2	liver:	n/a	n/a
47	TBL1XR1	chr6:12012860-12013841	GM12878	blood:	n/a	n/a
48	POU2F2	chr6:12012840-12013680	GM12891	blood:	n/a	chr6:12013442-12013454
49	POLR2A	chr6:12010517-12015551	HepG2	liver:	n/a	n/a
50	POLR2A	chr6:12012995-12013153	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:12013002-12013052	PANC-1	pancreas:	n/a
2	chr6:12013002-12013052	Jurkat	blood:	n/a
3	chr6:12013002-12013052	AoSMC	blood vessel:	n/a
4	chr6:12013002-12013052	HMEC	breast:	n/a
5	chr6:12013002-12013052	Hela-S3	cervix:	n/a
6	chr6:12013002-12013052	NHDF-neo	bronchial:	n/a
7	chr6:12013002-12013052	HCF	heart:	n/a
8	chr6:12013002-12013052	T-47D	breast:	n/a
9	chr6:12013002-12013052	NT2-D1	testis:	n/a
10	chr6:12013002-12013052	Caco-2	colon:	n/a
11	chr6:12013002-12013052	U87	brain:	n/a
12	chr6:12013002-12013052	HepG2	liver:	n/a
13	chr6:12013002-12013052	SKMC	muscle:	n/a
14	chr6:12013002-12013052	HL-60	blood:	n/a
15	chr6:12013002-12013052	K562	blood:	n/a
16	chr6:12013002-12013052	HRCEpiC	kidney:	n/a
17	chr6:12013002-12013052	NH-A	brain:	n/a
18	chr6:12013002-12013052	GM12892	blood:	n/a
19	chr6:12013002-12013052	SK-N-SH_RA	brain:	n/a
20	chr6:12013002-12013052	HCM	heart:	n/a
21	chr6:12013002-12013052	BE2_C	brain:	n/a
22	chr6:12013002-12013052	AG09309	skin:	n/a
23	chr6:12013002-12013052	MCF-7	breast:	n/a
24	chr6:12013002-12013052	NHBE	bronchial:	n/a
25	chr6:12013002-12013052	HRE	kidney:	n/a
26	chr6:12013002-12013052	HNPCEpiC	eye:	n/a
27	chr6:12013002-12013052	ProgFib	skin:	n/a
28	chr6:12013002-12013052	RPTEC	kidney:	n/a
29	chr6:12013002-12013052	SK-N-MC	brain:	n/a
30	chr6:12013002-12013052	AG04450	lung:	fetal
31	chr6:12013002-12013052	ECC-1	luminal epithelium:	n/a
32	chr6:12013002-12013052	HIPEpiC	eye:	n/a
33	chr6:12013002-12013052	SAEC	small airway:	n/a
34	chr6:12013002-12013052	HEEpiC	esophagus:	n/a
35	chr6:12013002-12013052	IMR90	lung:	fetal
36	chr6:12013002-12013052	GM06990	blood:	n/a
37	chr6:12013002-12013052	A549	lung:	n/a
38	chr6:12013002-12013052	AG04449	skin:	fetal
39	chr6:12013002-12013052	BJ	skin:	n/a
40	chr6:12013002-12013052	SK-N-SH	brain:	n/a
41	chr6:12013002-12013052	H1-hESC	embryonic stem cell:	embryo
42	chr6:12013002-12013052	PrEC	prostate:	n/a
43	chr6:12013002-12013052	AG09319	gingival:	n/a
44	chr6:12013002-12013052	HRPEpiC	eye:	n/a
45	chr6:12013002-12013052	MCF10A-Er-Src	breast:	n/a
46	chr6:12013002-12013052	Hepatocyte	liver:	n/a
47	chr6:12013002-12013052	PFSK-1	brain:	n/a
48	chr6:12013002-12013052	HUVEC	blood vessel:	n/a
49	chr6:12013002-12013052	NB4	blood:	n/a
50	chr6:12013002-12013052	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:11990522..11992970-chr6:12011349..12014154,2	MCF-7	breast:
2	chr6:12012948..12015001-chr6:12120385..12122503,2	K562	blood:
3	chr6:11766943..11769804-chr6:12011580..12013984,2	MCF-7	breast:
4	chr6:12012615..12014347-chr6:20401319..20403789,2	K562	blood:
5	chr6:11766544..11768808-chr6:12011516..12013304,2	MCF-7	breast:
6	chr17:41465688..41466547-chr6:12012651..12013455,2	Hela-S3	cervix:
7	chr6:12009898..12015137-chr6:12286715..12292291,9	MCF-7	breast:
8	chr6:12009262..12013340-chr6:12286174..12290698,6	MCF-7	breast:

Variant related genes	Relation type
HIVEP1	TF binding region
HIVEP1	CpG island
ENSG00000225102	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000078401	Chromatin interaction
ENSG00000111863	Chromatin interaction
ENSG00000112242	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	chr6:12010400-12013800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:12010600-12013600	Active TSS	HSMM	muscle
17	chr6:12010600-12013800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:12010600-12013800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:12010600-12013800	Active TSS	Left Ventricle	heart
20	chr6:12010600-12013800	Active TSS	Lung	lung
21	chr6:12010600-12013800	Active TSS	NHDF-Ad	bronchial
22	chr6:12010600-12014000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:12010600-12014000	Active TSS	Ovary	ovary
24	chr6:12010600-12014200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr6:12010600-12014400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:12010800-12013600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:12010800-12013600	Active TSS	Brain Angular Gyrus	brain
28	chr6:12010800-12013600	Active TSS	Fetal Intestine Small	intestine
29	chr6:12010800-12013600	Active TSS	Pancreas	Pancrea
30	chr6:12010800-12013600	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr6:12010800-12013600	Active TSS	Stomach Smooth Muscle	stomach
32	chr6:12010800-12013600	Active TSS	HMEC	breast
33	chr6:12010800-12013800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:12010800-12013800	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr6:12010800-12013800	Active TSS	Esophagus	oesophagus
36	chr6:12010800-12013800	Active TSS	Small Intestine	intestine
37	chr6:12010800-12014000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:12010800-12014000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:12010800-12014000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:12010800-12014200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr6:12010800-12014200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:12010800-12014200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:12010800-12014400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr6:12011000-12013200	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr6:12011000-12013400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:12011000-12013400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr6:12011000-12013400	Active TSS	Rectal Smooth Muscle	rectum
48	chr6:12011000-12013400	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:12011000-12013400	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr6:12011000-12013600	Active TSS	Hela-S3	cervix

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