Variant report

Variant	rs11962853
Chromosome Location	chr6:144164410-144164411
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:512)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr6:144164138-144164670	A549	lung:	n/a	n/a
2	JUN	chr6:144163482-144165962	K562	blood:	n/a	chr6:144164709-144164720
3	MAX	chr6:144164046-144164973	Hela-S3	cervix:	n/a	n/a
4	RCOR1	chr6:144164074-144164807	GM12878	blood:	n/a	n/a
5	MXI1	chr6:144163697-144165380	HepG2	liver:	n/a	chr6:144164045-144164060 chr6:144164043-144164058
6	TCF7L2	chr6:144163919-144164854	HCT-116	colon:	n/a	n/a
7	ZBTB33	chr6:144163885-144165054	SK-N-SH	brain:	n/a	chr6:144164381-144164396
8	GTF2F1	chr6:144163970-144164893	K562	blood:	n/a	n/a
9	ATF1	chr6:144164205-144164690	K562	blood:	n/a	n/a
10	POLR2A	chr6:144163806-144165048	GM12892	blood:	n/a	n/a
11	ATF3	chr6:144164113-144164656	K562	blood:	n/a	chr6:144164472-144164483 chr6:144164474-144164485 chr6:144164475-144164486
12	CCNT2	chr6:144164024-144164732	K562	blood:	n/a	n/a
13	TCF12	chr6:144164215-144164863	ECC-1	luminal epithelium:	n/a	n/a
14	RAD21	chr6:144163887-144165145	H1-hESC	embryonic stem cell:	n/a	chr6:144164367-144164381
15	RCOR1	chr6:144163973-144164927	HepG2	liver:	n/a	n/a
16	TAF1	chr6:144164022-144164893	GM12878	blood:	n/a	n/a
17	YY1	chr6:144164002-144164695	K562	blood:	n/a	n/a
18	MBD4	chr6:144163945-144165089	HepG2	liver:	n/a	n/a
19	RUNX3	chr6:144163937-144165058	GM12878	blood:	n/a	n/a
20	ZMIZ1	chr6:144163976-144164936	K562	blood:	n/a	n/a
21	POLR2A	chr6:144163919-144165061	GM12878	blood:	n/a	n/a
22	ZBTB33	chr6:144164198-144164601	HCT-116	colon:	n/a	chr6:144164381-144164396
23	ELF1	chr6:144163887-144165048	GM12878	blood:	n/a	n/a
24	SMC3	chr6:144164257-144164900	K562	blood:	n/a	n/a
25	MBD4	chr6:144163918-144164874	HepG2	liver:	n/a	n/a
26	MYC	chr6:144163918-144165070	K562	blood:	n/a	n/a
27	JUND	chr6:144164172-144164731	HepG2	liver:	n/a	chr6:144164709-144164720
28	JUND	chr6:144164025-144164664	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:144163927-144164970	GM15510	blood:	n/a	n/a
30	CHD2	chr6:144163984-144165033	GM12878	blood:	n/a	n/a
31	JUND	chr6:144164025-144164731	H1-hESC	embryonic stem cell:	n/a	chr6:144164709-144164720
32	SIN3AK20	chr6:144163950-144164821	HepG2	liver:	n/a	n/a
33	RAD21	chr6:144164251-144164683	K562	blood:	n/a	chr6:144164367-144164381
34	NR2F2	chr6:144164032-144164830	K562	blood:	n/a	n/a
35	POLR2A	chr6:144164000-144165038	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr6:144164182-144164843	H1-hESC	embryonic stem cell:	n/a	n/a
37	HNF4A	chr6:144164052-144164879	HepG2	liver:	n/a	chr6:144164536-144164551 chr6:144164538-144164550 chr6:144164536-144164551
38	E2F6	chr6:144164201-144164798	K562	blood:	n/a	n/a
39	ELF1	chr6:144163983-144164950	K562	blood:	n/a	n/a
40	USF1	chr6:144164260-144164681	K562	blood:	n/a	chr6:144164597-144164613
41	MXI1	chr6:144163468-144165718	SK-N-SH	brain:	n/a	chr6:144164045-144164060 chr6:144164043-144164058
42	JUND	chr6:144164306-144164646	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr6:144163963-144164835	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr6:144163900-144165025	K562	blood:	n/a	n/a
45	SP1	chr6:144163985-144164824	GM12878	blood:	n/a	chr6:144164061-144164075 chr6:144164060-144164072 chr6:144164060-144164072 chr6:144164062-144164071 chr6:144164061-144164071
46	SIX5	chr6:144164199-144164625	K562	blood:	n/a	n/a
47	CREB1	chr6:144164175-144164934	A549	lung:	n/a	n/a
48	YY1	chr6:144163902-144164911	HepG2	liver:	n/a	n/a
49	MAX	chr6:144163912-144165078	A549	lung:	n/a	n/a
50	TBL1XR1	chr6:144163933-144164979	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:144164400-144164450	HPAEpiC	pulmonary alveolar:	n/a
2	chr6:144164392-144164442	AG09319	gingival:	n/a
3	chr6:144164392-144164442	AG04449	skin:	fetal
4	chr6:144164400-144164450	HCT-116	colon:	n/a
5	chr6:144164400-144164450	SK-N-SH_RA	brain:	n/a
6	chr6:144164392-144164442	SK-N-MC	brain:	n/a
7	chr6:144164400-144164450	PANC-1	pancreas:	n/a
8	chr6:144164400-144164450	IMR90	lung:	fetal
9	chr6:144164392-144164442	GM12892	blood:	n/a
10	chr6:144164392-144164442	Hela-S3	cervix:	n/a
11	chr6:144164392-144164442	NHDF-neo	bronchial:	n/a
12	chr6:144164400-144164450	SAEC	small airway:	n/a
13	chr6:144164392-144164442	GM19239	blood:	n/a
14	chr6:144164400-144164450	H1-hESC	embryonic stem cell:	embryo
15	chr6:144164400-144164450	NB4	blood:	n/a
16	chr6:144164400-144164450	HEEpiC	esophagus:	n/a
17	chr6:144164392-144164442	SKMC	muscle:	n/a
18	chr6:144164400-144164450	GM12891	blood:	n/a
19	chr6:144164400-144164450	LNCaP	prostate:	n/a
20	chr6:144164400-144164450	Hepatocyte	liver:	n/a
21	chr6:144164392-144164442	ProgFib	skin:	n/a
22	chr6:144164400-144164450	NT2-D1	testis:	n/a
23	chr6:144164392-144164442	H1-hESC	embryonic stem cell:	embryo
24	chr6:144164392-144164442	PrEC	prostate:	n/a
25	chr6:144164392-144164442	T-47D	breast:	n/a
26	chr6:144164392-144164442	AG09309	skin:	n/a
27	chr6:144164400-144164450	U87	brain:	n/a
28	chr6:144164392-144164442	U87	brain:	n/a
29	chr6:144164400-144164450	HIPEpiC	eye:	n/a
30	chr6:144164400-144164450	NH-A	brain:	n/a
31	chr6:144164392-144164442	HRE	kidney:	n/a
32	chr6:144164400-144164450	SK-N-MC	brain:	n/a
33	chr6:144164392-144164442	A549	lung:	n/a
34	chr6:144164392-144164442	K562	blood:	n/a
35	chr6:144164400-144164450	NHBE	bronchial:	n/a
36	chr6:144164400-144164450	BJ	skin:	n/a
37	chr6:144164392-144164442	BJ	skin:	n/a
38	chr6:144164392-144164442	HRCEpiC	kidney:	n/a
39	chr6:144164400-144164450	HRE	kidney:	n/a
40	chr6:144164400-144164450	SKMC	muscle:	n/a
41	chr6:144164392-144164442	HEEpiC	esophagus:	n/a
42	chr6:144164392-144164442	MCF-7	breast:	n/a
43	chr6:144164400-144164450	RPTEC	kidney:	n/a
44	chr6:144164392-144164442	Hepatocyte	liver:	n/a
45	chr6:144164400-144164450	SK-N-SH	brain:	n/a
46	chr6:144164392-144164442	Caco-2	colon:	n/a
47	chr6:144164400-144164450	AG09309	skin:	n/a
48	chr6:144164392-144164442	PANC-1	pancreas:	n/a
49	chr6:144164392-144164442	IMR90	lung:	fetal
50	chr6:144164392-144164442	GM12891	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144163076..144165492-chr6:144183251..144186623,3	MCF-7	breast:
2	chr6:144162988..144165888-chr6:144327569..144329475,4	K562	blood:
3	chr6:143997590..144001098-chr6:144164062..144165676,3	K562	blood:
4	chr6:144164140..144164989-chr9:100459477..100460017,2	HCT-116	colon:
5	chr6:144125993..144131102-chr6:144162982..144165741,8	K562	blood:
6	chr6:144162948..144166199-chr6:144325900..144330312,6	K562	blood:
7	chr6:144162737..144166210-chr6:144175633..144179990,5	K562	blood:
8	chr6:144127689..144129702-chr6:144164044..144166311,2	K562	blood:
9	chr19:48828370..48829249-chr6:144164008..144164741,2	NB4	blood:
10	chr3:73160102..73160604-chr6:144163755..144164697,2	NB4	blood:
11	chr6:144163914..144166210-chr6:144177303..144180318,3	K562	blood:

No data

Variant related genes	Relation type
LTV1	TF binding region
LTV1	CpG island
ENSG00000118491	Chromatin interaction
ENSG00000118495	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000142227	Chromatin interaction
ENSG00000270890	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000257065	Chromatin interaction
ENSG00000112419	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2076702	1.00[EUR][1000 genomes]
rs56876317	1.00[EUR][1000 genomes]
rs57100033	1.00[EUR][1000 genomes]
rs59530956	1.00[EUR][1000 genomes]
rs61181766	1.00[EUR][1000 genomes]
rs73778677	1.00[EUR][1000 genomes]
rs73778686	1.00[EUR][1000 genomes]
rs9484800	1.00[EUR][1000 genomes]
rs9484801	1.00[EUR][1000 genomes]
rs9484804	1.00[EUR][1000 genomes]
rs9496746	1.00[EUR][1000 genomes]
rs9496759	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1034894	chr6:144148566-144170036	Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 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	chr6:144163600-144164600	Active TSS	Colonic Mucosa	Colon
2	chr6:144163600-144164600	Active TSS	Fetal Muscle Trunk	muscle
3	chr6:144163600-144164600	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr6:144163600-144164600	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr6:144163600-144164600	Active TSS	Stomach Smooth Muscle	stomach
6	chr6:144163600-144164800	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr6:144163600-144164800	Active TSS	Rectal Smooth Muscle	rectum
8	chr6:144163600-144165000	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr6:144163600-144165000	Active TSS	Brain Anterior Caudate	brain
10	chr6:144163600-144165000	Active TSS	Brain Hippocampus Middle	brain
11	chr6:144163600-144165000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:144163600-144165000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:144163600-144165000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:144163600-144165000	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr6:144163600-144165200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:144163600-144165200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:144163600-144165200	Active TSS	Brain Angular Gyrus	brain
18	chr6:144163600-144165200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr6:144163600-144165200	Active TSS	Colon Smooth Muscle	Colon
20	chr6:144163600-144165200	Active TSS	Fetal Brain Female	brain
21	chr6:144163600-144165200	Active TSS	Thymus	Thymus
22	chr6:144163600-144165200	Active TSS	HSMMtube	muscle
23	chr6:144163600-144165400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:144163600-144165400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:144163600-144165400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:144163600-144165400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:144163600-144165400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr6:144163600-144165400	Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:144163600-144165400	Active TSS	HMEC	breast
30	chr6:144163600-144165400	Active TSS	NHDF-Ad	bronchial
31	chr6:144163600-144165600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr6:144163600-144165600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:144163600-144165600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:144163600-144165600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:144163600-144165600	Active TSS	Brain Substantia Nigra	brain
36	chr6:144163600-144165600	Active TSS	Right Ventricle	heart
37	chr6:144163600-144165600	Active TSS	GM12878-XiMat	blood
38	chr6:144163600-144165600	Active TSS	NHLF	lung
39	chr6:144163600-144165800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr6:144163600-144165800	Active TSS	Psoas Muscle	Psoas
41	chr6:144163600-144165800	Active TSS	Hela-S3	cervix
42	chr6:144163600-144165800	Active TSS	HSMM	muscle
43	chr6:144163800-144164800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:144163800-144164800	Bivalent/Poised TSS	HepG2	liver
45	chr6:144163800-144165000	Active TSS	Brain Germinal Matrix	brain
46	chr6:144163800-144165000	Active TSS	Duodenum Mucosa	Duodenum
47	chr6:144163800-144165000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr6:144163800-144165200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:144163800-144165200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:144163800-144165200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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