Variant report

Variant	rs6772192
Chromosome Location	chr3:119182998-119182999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:222)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:222 , 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	RELA	chr3:119182234-119183100	GM12891	blood:	n/a	n/a
2	USF2	chr3:119182305-119183157	GM12878	blood:	n/a	n/a
3	RUNX3	chr3:119181742-119183285	GM12878	blood:	n/a	chr3:119182048-119182057
4	TCF7L2	chr3:119182000-119183133	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr3:119182207-119183013	HUVEC	blood vessel:	n/a	n/a
6	JUND	chr3:119182259-119183073	K562	blood:	n/a	chr3:119182486-119182495
7	RELA	chr3:119182041-119183150	GM18951	blood:	n/a	n/a
8	TBP	chr3:119182243-119183309	HepG2	liver:	n/a	n/a
9	CHD1	chr3:119180705-119183081	IMR90	lung:	n/a	n/a
10	RCOR1	chr3:119182224-119183094	HepG2	liver:	n/a	n/a
11	MAX	chr3:119182006-119183132	A549	lung:	n/a	n/a
12	TBL1XR1	chr3:119182282-119183185	GM12878	blood:	n/a	n/a
13	POLR2A	chr3:119182057-119183186	GM18526	blood:	n/a	n/a
14	MTA3	chr3:119181718-119183385	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:119181887-119183156	GM12891	blood:	n/a	n/a
16	POLR2A	chr3:119181700-119183124	GM12891	blood:	n/a	n/a
17	POLR2A	chr3:119181971-119183198	PFSK-1	brain:	n/a	n/a
18	MXI1	chr3:119181579-119183308	SK-N-SH	brain:	n/a	n/a
19	REST	chr3:119182024-119183109	HL-60	blood:	n/a	chr3:119182990-119182999
20	POLR2A	chr3:119181727-119183311	GM12878	blood:	n/a	n/a
21	GABPA	chr3:119182227-119183023	SK-N-SH	brain:	n/a	chr3:119182567-119182581
22	GABPA	chr3:119182147-119183048	SK-N-SH	brain:	n/a	chr3:119182567-119182581
23	POLR2A	chr3:119181771-119183410	MCF10A-Er-Src	breast:	n/a	n/a
24	GATA3	chr3:119182082-119183102	A549	lung:	n/a	chr3:119182660-119182667
25	USF2	chr3:119182349-119183012	H1-hESC	embryonic stem cell:	n/a	n/a
26	PML	chr3:119181879-119183281	GM12878	blood:	n/a	n/a
27	CHD2	chr3:119181963-119183210	GM12878	blood:	n/a	n/a
28	TBP	chr3:119181951-119183182	K562	blood:	n/a	n/a
29	MXI1	chr3:119181563-119183030	IMR90	lung:	n/a	n/a
30	POLR2A	chr3:119181832-119183185	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr3:119182119-119183118	NB4	blood:	n/a	n/a
32	SRF	chr3:119181943-119183042	HCT-116	colon:	n/a	n/a
33	SIN3AK20	chr3:119181919-119183087	HCT-116	colon:	n/a	n/a
34	POLR2A	chr3:119182241-119183272	HCT-116	colon:	n/a	n/a
35	POLR2A	chr3:119182005-119183256	K562	blood:	n/a	n/a
36	POLR2A	chr3:119182134-119183042	H1-neurons	neurons:	n/a	n/a
37	CREB1	chr3:119182064-119183270	GM12878	blood:	n/a	chr3:119182484-119182497
38	POLR2A	chr3:119181669-119183134	IMR90	lung:	n/a	n/a
39	POLR2A	chr3:119182058-119183204	U87	brain:	n/a	n/a
40	TAF1	chr3:119182195-119183058	MCF-7	breast:	n/a	n/a
41	POLR2A	chr3:119182106-119183225	GM15510	blood:	n/a	n/a
42	SP1	chr3:119182324-119183118	GM12878	blood:	n/a	chr3:119182609-119182623 chr3:119182609-119182618 chr3:119182608-119182620 chr3:119182608-119182620
43	POLR2A	chr3:119181703-119183343	PBDE	blood:	n/a	n/a
44	RELA	chr3:119182307-119183159	GM19099	blood:	n/a	n/a
45	POLR2A	chr3:119181870-119183083	HL-60	blood:	n/a	n/a
46	IRF1	chr3:119182292-119183291	K562	blood:	n/a	chr3:119182606-119182620
47	POLR2A	chr3:119181723-119183289	GM12878	blood:	n/a	n/a
48	FOXM1	chr3:119182111-119183065	GM12878	blood:	n/a	n/a
49	YY1	chr3:119182081-119182999	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr3:119181830-119183164	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:73082165..73082838-chr3:119182253..119183080,2	Hela-S3	cervix:
2	chr3:119182024..119184224-chr3:119215586..119219856,7	MCF-7	breast:
3	chr3:119181413..119183027-chr3:119814257..119816285,2	MCF-7	breast:
4	chr3:119181455..119183728-chr3:119216896..119218706,2	MCF-7	breast:
5	chr3:119182484..119183118-chr6:26158028..26158763,2	NB4	blood:
6	chr3:119180899..119185941-chr3:119186195..119190279,17	K562	blood:
7	chr3:119181523..119183291-chr3:119394912..119396579,2	MCF-7	breast:
8	chr16:3930418..3930989-chr3:119182484..119183143,2	Hela-S3	cervix:
9	chr3:119181428..119184178-chr3:119215849..119218868,6	K562	blood:
10	chr3:119181870..119185760-chr3:119214240..119218868,7	K562	blood:
11	chr3:119181316..119183992-chr3:119395288..119397711,2	MCF-7	breast:

No data

Variant related genes	Relation type
POGLUT1	TF binding region
TMEM39A	TF binding region
ENSG00000176142	Chromatin interaction
ENSG00000138495	Chromatin interaction
ENSG00000140836	Chromatin interaction
ENSG00000113845	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000005339	Chromatin interaction
ENSG00000272662	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000163389	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11921247	1.00[EUR][1000 genomes]
rs16830079	1.00[EUR][1000 genomes]
rs16830095	1.00[EUR][1000 genomes]
rs16830098	1.00[EUR][1000 genomes]
rs3968056	1.00[AMR][1000 genomes]
rs56659708	1.00[AMR][1000 genomes]
rs61324063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61747387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6766961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6781905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6782742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970303	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970308	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970314	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119180600-119183000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:119180600-119183200	Active TSS	Right Ventricle	heart
3	chr3:119181000-119183000	Active TSS	Fetal Muscle Trunk	muscle
4	chr3:119181000-119183000	Active TSS	Psoas Muscle	Psoas
5	chr3:119181000-119183000	Active TSS	Right Atrium	heart
6	chr3:119181000-119183200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr3:119181200-119183000	Active TSS	Ovary	ovary
8	chr3:119181200-119183000	Active TSS	GM12878-XiMat	blood
9	chr3:119181200-119183000	Active TSS	K562	blood
10	chr3:119181200-119183200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:119181200-119183200	Active TSS	Stomach Mucosa	stomach
12	chr3:119181200-119183400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr3:119181200-119183400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr3:119181400-119183000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr3:119181400-119183000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:119181400-119183000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr3:119181400-119183000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:119181400-119183200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr3:119181400-119183200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr3:119181600-119183000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr3:119181600-119183000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:119181600-119183000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:119181600-119183000	Active TSS	Placenta Amnion	Placenta Amnion
24	chr3:119181600-119183200	Active TSS	Colonic Mucosa	Colon
25	chr3:119181800-119183000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:119181800-119183000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:119181800-119183000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:119181800-119183000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:119181800-119183000	Active TSS	Gastric	stomach
30	chr3:119181800-119183000	Active TSS	Left Ventricle	heart
31	chr3:119181800-119183000	Active TSS	Lung	lung
32	chr3:119181800-119183000	Active TSS	Pancreas	Pancrea
33	chr3:119181800-119183000	Active TSS	Small Intestine	intestine
34	chr3:119181800-119183200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:119181800-119183200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:119181800-119183200	Active TSS	Fetal Brain Male	brain
37	chr3:119181800-119183200	Active TSS	Fetal Brain Female	brain
38	chr3:119182000-119183000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:119182000-119183000	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr3:119182000-119183000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:119182000-119183400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr3:119182400-119183000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:119182400-119183000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:119182400-119183000	Active TSS	HepG2	liver
45	chr3:119182400-119183200	Active TSS	Brain Germinal Matrix	brain
46	chr3:119182600-119183000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr3:119182600-119183000	Flanking Active TSS	Esophagus	oesophagus
48	chr3:119182600-119183000	Flanking Active TSS	HUVEC	blood vessel
49	chr3:119182600-119183000	Flanking Active TSS	NH-A	brain
50	chr3:119182600-119183200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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