Variant report

Variant	rs3791742
Chromosome Location	chr2:114650488-114650489
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	FOS	chr2:114650350-114650542	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr2:114643910-114650805	GM12878	blood:	n/a	n/a
3	MYC	chr2:114649661-114650652	K562	blood:	n/a	n/a
4	RCOR1	chr2:114649598-114650536	K562	blood:	n/a	n/a
5	ARID3A	chr2:114649233-114650553	K562	blood:	n/a	chr2:114649413-114649429
6	EP300	chr2:114649705-114650571	GM12878	blood:	n/a	n/a
7	JUN	chr2:114646678-114650600	K562	blood:	n/a	chr2:114647000-114647009 chr2:114647383-114647397
8	IRF1	chr2:114648226-114650775	K562	blood:	n/a	chr2:114650473-114650480 chr2:114649730-114649744 chr2:114650045-114650059
9	FOS	chr2:114650457-114650581	MCF10A-Er-Src	breast:	n/a	n/a
10	JUND	chr2:114649823-114650658	K562	blood:	n/a	n/a
11	POLR2A	chr2:114646920-114650720	K562	blood:	n/a	n/a
12	POLR2A	chr2:114649450-114650872	GM12891	blood:	n/a	n/a
13	STAT3	chr2:114650351-114650518	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114649589..114651914-chr2:114675375..114678075,2	MCF-7	breast:
2	chr2:114648278..114650934-chr2:114677225..114679132,2	K562	blood:
3	chr2:114647663..114650657-chr2:114707458..114709843,3	K562	blood:
4	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
5	chr2:114647663..114650657-chr2:114707458..114709843,2	K562	blood:
6	chr2:114650237..114652032-chr2:114672762..114674303,2	MCF-7	breast:
7	chr2:114512680..114516386-chr2:114646106..114650521,15	K562	blood:
8	chr2:114512629..114516386-chr2:114645660..114650521,15	K562	blood:

Variant related genes	Relation type
ENSG00000270019	TF binding region
ENSG00000115091	Chromatin interaction
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10187493	0.83[ASN][1000 genomes]
rs10187590	0.82[ASN][1000 genomes]
rs2134778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279838	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3748996	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59235945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60060801	0.84[ASN][1000 genomes]
rs62171763	0.86[ASN][1000 genomes]
rs62171780	0.97[ASN][1000 genomes]
rs7580260	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114646400-114650800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:114646600-114651000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr2:114646800-114650600	Active TSS	Aorta	Aorta
4	chr2:114646800-114650800	Active TSS	HSMMtube	muscle
5	chr2:114647200-114650800	Active TSS	Primary T cells fromperipheralblood	blood
6	chr2:114648600-114651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:114648600-114651600	Weak transcription	Esophagus	oesophagus
8	chr2:114648600-114651600	Weak transcription	Spleen	Spleen
9	chr2:114648600-114657800	Weak transcription	Gastric	stomach
10	chr2:114648600-114667600	Weak transcription	Lung	lung
11	chr2:114648800-114651600	Weak transcription	Pancreas	Pancrea
12	chr2:114648800-114653400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:114649000-114651800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:114649000-114652000	Weak transcription	Ovary	ovary
15	chr2:114649200-114650800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:114649200-114651400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:114649200-114651400	Enhancers	Liver	Liver
18	chr2:114649200-114652000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:114649200-114652000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:114649200-114653200	Enhancers	Brain Anterior Caudate	brain
21	chr2:114649200-114653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:114649200-114661200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
24	chr2:114649400-114650600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:114649400-114650600	Flanking Active TSS	HUVEC	blood vessel
26	chr2:114649400-114650800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:114649400-114650800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:114649400-114650800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr2:114649400-114650800	Flanking Active TSS	Osteobl	bone
30	chr2:114649400-114651000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr2:114649400-114651600	Weak transcription	Colonic Mucosa	Colon
32	chr2:114649400-114652200	Enhancers	Brain Angular Gyrus	brain
33	chr2:114649400-114654000	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr2:114649400-114655200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:114649600-114650800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:114649600-114650800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr2:114649600-114650800	Transcr. at gene 5' and 3'	NH-A	brain
38	chr2:114649600-114650800	Flanking Active TSS	NHEK	skin
39	chr2:114649600-114652000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:114649600-114661000	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:114649800-114650600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:114649800-114650600	Enhancers	Fetal Kidney	kidney
43	chr2:114649800-114650600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
44	chr2:114649800-114650600	Flanking Active TSS	NHLF	lung
45	chr2:114649800-114650800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
46	chr2:114649800-114650800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:114649800-114650800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:114649800-114650800	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:114649800-114650800	Flanking Active TSS	A549	lung
50	chr2:114649800-114651200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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