Variant report

Variant	rs41270443
Chromosome Location	chr3:112710194-112710195
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:410)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:410 , 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	MBD4	chr3:112709307-112710245	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:112709594-112710290	GM12891	blood:	n/a	n/a
3	MYC	chr3:112710047-112710216	HUVEC	blood vessel:	n/a	n/a
4	ZNF217	chr3:112709379-112710315	MCF-7	breast:	n/a	n/a
5	CUX1	chr3:112709845-112710286	K562	blood:	n/a	n/a
6	ZEB1	chr3:112709831-112710391	GM12878	blood:	n/a	chr3:112710041-112710050
7	KAP1	chr3:112709366-112710536	HEK293	kidney:	n/a	n/a
8	CHD1	chr3:112709443-112710748	GM12878	blood:	n/a	chr3:112709691-112709701
9	POLR2A	chr3:112709428-112710398	HepG2	liver:	n/a	n/a
10	MXI1	chr3:112709359-112710470	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:112709550-112710328	GM12891	blood:	n/a	n/a
12	MYC	chr3:112710062-112710222	MCF-7	breast:	n/a	n/a
13	MAX	chr3:112709326-112710363	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr3:112709522-112710257	K562	blood:	n/a	n/a
15	POLR2A	chr3:112709524-112710283	SK-N-SH	brain:	n/a	n/a
16	CREB1	chr3:112709513-112710509	H1-hESC	embryonic stem cell:	n/a	n/a
17	TBP	chr3:112709501-112710314	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:112709441-112710402	H1-hESC	embryonic stem cell:	n/a	n/a
19	ARID3A	chr3:112709542-112710316	HepG2	liver:	n/a	n/a
20	GABPA	chr3:112709364-112710487	A549	lung:	n/a	chr3:112709785-112709796
21	IRF1	chr3:112709627-112710251	K562	blood:	n/a	n/a
22	HEY1	chr3:112709461-112710382	K562	blood:	n/a	n/a
23	PBX3	chr3:112709199-112710282	A549	lung:	n/a	n/a
24	MXI1	chr3:112709337-112710650	IMR90	lung:	n/a	n/a
25	CREB1	chr3:112709482-112710462	HepG2	liver:	n/a	n/a
26	NRF1	chr3:112709193-112710633	SK-N-SH	brain:	n/a	chr3:112709785-112709796 chr3:112709785-112709796
27	POLR2A	chr3:112709412-112710499	PANC-1	pancreas:	n/a	n/a
28	BCL3	chr3:112709303-112710379	A549	lung:	n/a	chr3:112709664-112709677
29	POLR2A	chr3:112709556-112710273	H1-hESC	embryonic stem cell:	n/a	n/a
30	E2F6	chr3:112709272-112710407	H1-hESC	embryonic stem cell:	n/a	chr3:112709691-112709702
31	PML	chr3:112709267-112710614	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:112709430-112710415	K562	blood:	n/a	n/a
33	BRCA1	chr3:112709305-112710939	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr3:112709430-112710345	PANC-1	pancreas:	n/a	n/a
35	RUNX3	chr3:112709411-112710525	GM12878	blood:	n/a	chr3:112710265-112710274 chr3:112710265-112710274
36	CTCF	chr3:112709982-112710210	GM12892	blood:	n/a	n/a
37	FOXP2	chr3:112709946-112710272	PFSK-1	brain:	n/a	n/a
38	IRF1	chr3:112709416-112710392	K562	blood:	n/a	n/a
39	ZKSCAN1	chr3:112709616-112710356	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr3:112710022-112710223	NHEK	skin:	n/a	n/a
41	ATF3	chr3:112709655-112710196	A549	lung:	n/a	n/a
42	GABPA	chr3:112709415-112710327	A549	lung:	n/a	chr3:112709785-112709796
43	POLR2A	chr3:112709476-112710379	ECC-1	luminal epithelium:	n/a	n/a
44	MXI1	chr3:112709544-112710620	Hela-S3	cervix:	n/a	n/a
45	MAX	chr3:112709376-112710376	NB4	blood:	n/a	n/a
46	MAX	chr3:112709189-112710548	A549	lung:	n/a	n/a
47	BRCA1	chr3:112709828-112710272	HepG2	liver:	n/a	n/a
48	MAX	chr3:112709378-112710407	MCF-7	breast:	n/a	n/a
49	ZEB1	chr3:112709529-112710497	GM12878	blood:	n/a	chr3:112710041-112710050
50	POLR2A	chr3:112709393-112710426	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:112710191-112710241	AoSMC	blood vessel:	n/a
2	chr3:112710191-112710241	LNCaP	prostate:	n/a
3	chr3:112710191-112710241	PrEC	prostate:	n/a
4	chr3:112710191-112710241	GM12878	blood:	n/a
5	chr3:112710191-112710241	ovcar-3	ovarian:	n/a
6	chr3:112710191-112710241	Jurkat	blood:	n/a
7	chr3:112710191-112710241	NT2-D1	testis:	n/a
8	chr3:112710191-112710241	SK-N-SH_RA	brain:	n/a
9	chr3:112710191-112710241	T-47D	breast:	n/a
10	chr3:112710191-112710241	PANC-1	pancreas:	n/a
11	chr3:112710191-112710241	CMK	blood:	n/a
12	chr3:112710191-112710241	GM06990	blood:	n/a
13	chr3:112710191-112710241	MCF-7	breast:	n/a
14	chr3:112710191-112710241	RPTEC	kidney:	n/a
15	chr3:112710191-112710241	HCM	heart:	n/a
16	chr3:112710191-112710241	HEK293	kidney:	embryo
17	chr3:112710191-112710241	IMR90	lung:	fetal
18	chr3:112710191-112710241	SAEC	small airway:	n/a
19	chr3:112710191-112710241	Hepatocyte	liver:	n/a
20	chr3:112710191-112710241	SK-N-SH	brain:	n/a
21	chr3:112710191-112710241	SKMC	muscle:	n/a
22	chr3:112710191-112710241	HNPCEpiC	eye:	n/a
23	chr3:112710191-112710241	HRE	kidney:	n/a
24	chr3:112710191-112710241	GM12892	blood:	n/a
25	chr3:112710191-112710241	Hela-S3	cervix:	n/a
26	chr3:112710191-112710241	AG09309	skin:	n/a
27	chr3:112710191-112710241	BJ	skin:	n/a
28	chr3:112710191-112710241	NB4	blood:	n/a
29	chr3:112710191-112710241	U87	brain:	n/a
30	chr3:112710191-112710241	A549	lung:	n/a
31	chr3:112710191-112710241	GM19239	blood:	n/a
32	chr3:112710191-112710241	K562	blood:	n/a
33	chr3:112710191-112710241	BE2_C	brain:	n/a
34	chr3:112710191-112710241	NHBE	bronchial:	n/a
35	chr3:112710191-112710241	NHDF-neo	bronchial:	n/a
36	chr3:112710191-112710241	HRCEpiC	kidney:	n/a
37	chr3:112710191-112710241	HCT-116	colon:	n/a
38	chr3:112710191-112710241	PFSK-1	brain:	n/a
39	chr3:112710191-112710241	Caco-2	colon:	n/a
40	chr3:112710191-112710241	AG10803	skin:	n/a
41	chr3:112710191-112710241	GM12891	blood:	n/a
42	chr3:112710191-112710241	NH-A	brain:	n/a
43	chr3:112710191-112710241	AG09319	gingival:	n/a
44	chr3:112710191-112710241	ECC-1	luminal epithelium:	n/a
45	chr3:112710191-112710241	HPAEpiC	pulmonary alveolar:	n/a
46	chr3:112710191-112710241	HEEpiC	esophagus:	n/a
47	chr3:112710191-112710241	AG04450	lung:	fetal
48	chr3:112710191-112710241	HIPEpiC	eye:	n/a
49	chr3:112710191-112710241	HCPEpiC	choroid plexus:	n/a
50	chr3:112710191-112710241	AG04449	skin:	fetal

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:112710070..112710594-chr9:115141751..115142468,2	HCT-116	colon:
2	chr1:45240455..45241149-chr3:112709661..112710456,3	Hela-S3	cervix:
3	chr3:112358718..112361602-chr3:112709202..112711684,5	MCF-7	breast:
4	chr3:112709917..112711539-chr3:113232036..113234156,2	K562	blood:
5	chr3:112708559..112710573-chr3:112736590..112739999,3	K562	blood:
6	chr3:112354988..112357166-chr3:112709171..112711334,2	MCF-7	breast:
7	chr19:40931805..40932567-chr3:112709751..112710493,2	Hela-S3	cervix:
8	chr3:112357488..112363507-chr3:112707947..112711649,7	K562	blood:
9	chr3:112709706..112712038-chr3:112736780..112739124,2	MCF-7	breast:
10	chr3:112709836..112712161-chr3:112728676..112730465,2	MCF-7	breast:
11	chr3:112358506..112363260-chr3:112706755..112711649,8	K562	blood:
12	chr3:112709111..112712767-chr3:112725826..112728376,3	K562	blood:
13	chr3:112358478..112360877-chr3:112708365..112711089,3	MCF-7	breast:
14	chr3:112708671..112711453-chr3:112735992..112738475,2	K562	blood:
15	chr3:112708547..112711309-chr3:112736671..112738787,3	MCF-7	breast:
16	chr16:88519409..88520207-chr3:112709652..112710485,2	Hela-S3	cervix:
17	chr3:112279683..112282381-chr3:112710182..112712390,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272844	TF binding region
GTPBP8	TF binding region
ENSG00000272844	CpG island
GTPBP8	CpG island
ENSG00000179588	Chromatin interaction
ENSG00000240057	Chromatin interaction
ENSG00000144848	Chromatin interaction
ENSG00000197019	Chromatin interaction
ENSG00000119471	Chromatin interaction
ENSG00000163608	Chromatin interaction
ENSG00000091986	Chromatin interaction
ENSG00000138459	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000163611	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3732814	0.87[AMR][1000 genomes];0.81[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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1843165	chr3:112628205-112740145	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr3:112709000-112710800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr3:112709000-112711200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:112709000-112711600	Active TSS	K562	blood
4	chr3:112709200-112710400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:112709200-112710400	Active TSS	Adipose Nuclei	Adipose
6	chr3:112709200-112710400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr3:112709200-112710400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr3:112709200-112710600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr3:112709200-112710600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:112709200-112710600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:112709200-112710600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:112709200-112710600	Active TSS	Liver	Liver
13	chr3:112709200-112710600	Active TSS	Brain Hippocampus Middle	brain
14	chr3:112709200-112710600	Active TSS	Brain Substantia Nigra	brain
15	chr3:112709200-112710600	Active TSS	Fetal Brain Male	brain
16	chr3:112709200-112710600	Active TSS	Rectal Smooth Muscle	rectum
17	chr3:112709200-112710600	Active TSS	NH-A	brain
18	chr3:112709200-112710800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr3:112709200-112710800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr3:112709200-112710800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:112709200-112710800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:112709200-112710800	Active TSS	Duodenum Mucosa	Duodenum
23	chr3:112709200-112710800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr3:112709200-112710800	Active TSS	Fetal Heart	heart
25	chr3:112709200-112710800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr3:112709200-112710800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr3:112709200-112711000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:112709200-112711000	Active TSS	Brain Angular Gyrus	brain
29	chr3:112709200-112711000	Active TSS	A549	lung
30	chr3:112709200-112711200	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr3:112709200-112711200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:112709200-112711200	Active TSS	Brain Anterior Caudate	brain
33	chr3:112709200-112711200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:112709200-112711200	Active TSS	Colonic Mucosa	Colon
35	chr3:112709200-112711200	Active TSS	Stomach Smooth Muscle	stomach
36	chr3:112709200-112711600	Active TSS	H1 Cell Line	embryonic stem cell
37	chr3:112709200-112711800	Active TSS	NHLF	lung
38	chr3:112709400-112710400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:112709400-112710400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:112709400-112710400	Active TSS	Gastric	stomach
41	chr3:112709400-112710400	Active TSS	Lung	lung
42	chr3:112709400-112710600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr3:112709400-112710600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:112709400-112710600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:112709400-112710600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:112709400-112710600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:112709400-112710600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:112709400-112710600	Active TSS	Aorta	Aorta
49	chr3:112709400-112710600	Active TSS	Colon Smooth Muscle	Colon
50	chr3:112709400-112710600	Active TSS	Esophagus	oesophagus

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