Variant report

Variant	rs11920110
Chromosome Location	chr3:112737468-112737469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:112737462-112738876	GM18505	blood:	n/a	n/a
2	POLR2A	chr3:112737347-112738913	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:112737325-112737792	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:112737210-112739083	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr3:112736649-112739006	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:112737122-112738647	GM12878	blood:	n/a	n/a
7	MXI1	chr3:112736597-112739325	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr3:112737440-112738867	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr3:112737366-112738731	GM12891	blood:	n/a	n/a
10	POLR2A	chr3:112737352-112738883	ProgFib	skin:	n/a	n/a
11	POLR2A	chr3:112737243-112738878	GM12892	blood:	n/a	n/a
12	POLR2A	chr3:112737427-112738942	Raji	blood:	n/a	n/a
13	POLR2A	chr3:112737204-112738960	GM12892	blood:	n/a	n/a
14	POLR2A	chr3:112737314-112738864	GM19099	blood:	n/a	n/a
15	REST	chr3:112737244-112739184	H1-neurons	neurons:	n/a	chr3:112738589-112738602
16	POLR2A	chr3:112737407-112738869	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr3:112737289-112738993	GM12891	blood:	n/a	n/a
18	MXI1	chr3:112737350-112738955	GM12878	blood:	n/a	n/a
19	RELA	chr3:112737291-112739103	GM12891	blood:	n/a	n/a
20	POLR2A	chr3:112737287-112738971	GM12892	blood:	n/a	n/a
21	EBF1	chr3:112737292-112737736	GM12878	blood:	n/a	chr3:112737513-112737524
22	HCFC1	chr3:112736957-112739914	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr3:112737348-112738745	GM12891	blood:	n/a	n/a
24	EP300	chr3:112737451-112737590	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:112737380-112739021	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr3:112737347-112738867	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:112736657-112738890	MCF10A-Er-Src	breast:	n/a	n/a
28	MTA3	chr3:112737440-112738277	GM12878	blood:	n/a	n/a
29	POLR2A	chr3:112737374-112737897	GM12891	blood:	n/a	n/a
30	EBF1	chr3:112737343-112737648	GM12878	blood:	n/a	chr3:112737513-112737524
31	FOS	chr3:112737443-112737574	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr3:112737448-112738853	GM12878	blood:	n/a	n/a
33	POLR2A	chr3:112737315-112738893	PBDE	blood:	n/a	n/a
34	POLR2A	chr3:112737336-112737717	GM12892	blood:	n/a	n/a
35	POLR2A	chr3:112737392-112737606	HUVEC	blood vessel:	n/a	n/a
36	WRNIP1	chr3:112737062-112739088	GM12878	blood:	n/a	n/a
37	POLR2A	chr3:112736810-112738741	K562	blood:	n/a	n/a
38	ELK4	chr3:112737302-112737577	Hela-S3	cervix:	n/a	chr3:112737481-112737492
39	MTA3	chr3:112737172-112739173	GM12878	blood:	n/a	n/a
40	ATF2	chr3:112737433-112738785	GM12878	blood:	n/a	n/a
41	POLR2A	chr3:112737253-112737850	GM12891	blood:	n/a	n/a
42	TBP	chr3:112737335-112738885	GM12878	blood:	n/a	n/a
43	FOS	chr3:112737368-112737494	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr3:112737308-112738894	IMR90	lung:	n/a	n/a
45	PML	chr3:112737381-112739070	GM12878	blood:	n/a	n/a
46	ZNF263	chr3:112737428-112738739	HEK293-T-REx	kidney:	n/a	n/a
47	MYC	chr3:112737356-112737743	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr3:112737428-112738924	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:112737385..112738269-chrX:12992853..12993760,2	Hela-S3	cervix:
2	chr3:112726403..112732813-chr3:112735056..112739637,9	MCF-7	breast:
3	chr3:112709706..112712038-chr3:112736780..112739124,2	MCF-7	breast:
4	chr3:112358855..112360949-chr3:112737036..112738900,2	K562	blood:
5	chr3:112358697..112360499-chr3:112735766..112739410,3	MCF-7	breast:
6	chr3:112730174..112733803-chr3:112737181..112739606,5	MCF-7	breast:
7	chr3:112708671..112711453-chr3:112735992..112738475,2	K562	blood:
8	chr3:112358680..112360592-chr3:112737016..112739347,2	MCF-7	breast:
9	chr3:112279739..112282135-chr3:112735331..112738696,3	K562	blood:
10	chr3:112708547..112711309-chr3:112736671..112738787,3	MCF-7	breast:
11	chr3:112708559..112710573-chr3:112736590..112739999,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTPBP8-1	chr3:112737048-112738553	NONHSAT091210

No data

Variant related genes	Relation type
ENSG00000240057	TF binding region
ENSG00000163608	Chromatin interaction
ENSG00000138459	Chromatin interaction
ENSG00000163607	Chromatin interaction
ENSG00000091986	Chromatin interaction
ENSG00000272844	Chromatin interaction
ENSG00000144848	Chromatin interaction
ENSG00000205542	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2306858	1.00[AMR][1000 genomes]
rs3732813	1.00[AMR][1000 genomes]
rs3755743	1.00[AMR][1000 genomes]
rs3816832	1.00[AMR][1000 genomes]
rs57163779	1.00[AMR][1000 genomes]
rs58720412	1.00[AMR][1000 genomes]
rs59998761	1.00[AMR][1000 genomes]
rs72952159	1.00[AMR][1000 genomes]
rs72952160	1.00[AMR][1000 genomes]
rs72952161	1.00[AMR][1000 genomes]
rs72952168	1.00[AMR][1000 genomes]
rs72952171	1.00[AMR][1000 genomes]
rs72952182	1.00[AMR][1000 genomes]
rs72952190	1.00[AMR][1000 genomes]
rs72952192	1.00[AMR][1000 genomes]
rs7651481	1.00[AMR][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	chr3:112722000-112737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:112722000-112737600	Weak transcription	Gastric	stomach
3	chr3:112722200-112737600	Weak transcription	Esophagus	oesophagus
4	chr3:112725800-112737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:112732200-112737600	Weak transcription	Ovary	ovary
6	chr3:112736200-112738800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:112736600-112737600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr3:112736600-112737600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:112736600-112737600	Enhancers	Stomach Mucosa	stomach
10	chr3:112736600-112737600	Flanking Active TSS	HMEC	breast
11	chr3:112736600-112739000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:112736800-112737600	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:112736800-112737600	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:112736800-112737600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:112736800-112737600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr3:112736800-112737600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr3:112736800-112737800	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr3:112736800-112737800	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr3:112736800-112737800	Flanking Active TSS	Fetal Heart	heart
20	chr3:112736800-112737800	Enhancers	Small Intestine	intestine
21	chr3:112736800-112737800	Flanking Active TSS	Hela-S3	cervix
22	chr3:112736800-112737800	Flanking Active TSS	Osteobl	bone
23	chr3:112736800-112738000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:112736800-112738000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:112736800-112738800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr3:112737000-112737600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:112737000-112737600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr3:112737000-112737600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr3:112737000-112737600	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr3:112737000-112737800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr3:112737000-112737800	Flanking Active TSS	Fetal Lung	lung
32	chr3:112737000-112738000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr3:112737000-112738000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr3:112737000-112738000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:112737000-112738000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr3:112737000-112738000	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr3:112737000-112738000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr3:112737000-112738000	Flanking Active TSS	Dnd41	blood
39	chr3:112737000-112738000	Flanking Active TSS	HUVEC	blood vessel
40	chr3:112737000-112738000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr3:112737000-112738200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr3:112737000-112738200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr3:112737000-112738200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr3:112737000-112738800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:112737000-112738800	Active TSS	GM12878-XiMat	blood
46	chr3:112737000-112738800	Active TSS	HSMMtube	muscle
47	chr3:112737000-112739000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr3:112737000-112739000	Active TSS	Psoas Muscle	Psoas
49	chr3:112737000-112739000	Active TSS	Right Ventricle	heart
50	chr3:112737000-112739200	Active TSS	HUES48 Cell Line	embryonic stem cell

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