Variant report

Variant	rs6738373
Chromosome Location	chr2:151023850-151023851
allele	A/C
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	JUN	chr2:151022479-151024829	K562	blood:	n/a	chr2:151024331-151024340 chr2:151024330-151024339 chr2:151024331-151024339 chr2:151024332-151024339

No.	Distal block	Cell Line	Cell type
1	chr2:151018984..151021461-chr2:151021617..151024029,2	K562	blood:
2	chr2:151021749..151023909-chr2:151069571..151071445,2	MCF-7	breast:
3	chr2:151020603..151025476-chr2:151341674..151344465,7	MCF-7	breast:
4	chr2:151022613..151024999-chr2:151332492..151334061,2	MCF-7	breast:
5	chr2:151022947..151025702-chr2:151341739..151344961,4	MCF-7	breast:
6	chr2:150848914..150851850-chr2:151022945..151025102,2	MCF-7	breast:
7	chr2:151015440..151017637-chr2:151020964..151024352,3	MCF-7	breast:
8	chr2:150988564..150990849-chr2:151022615..151025266,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230645	TF binding region
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10174406	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10202809	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11681646	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11693323	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1374158	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667378	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169964	0.85[ASN][1000 genomes]
rs6707784	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv583294	chr2:151022044-151037893	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151017200-151024000	Weak transcription	NHDF-Ad	bronchial
2	chr2:151021800-151026200	Enhancers	NH-A	brain
3	chr2:151021800-151026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:151022200-151026000	Enhancers	HMEC	breast
5	chr2:151022200-151026400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:151022200-151026400	Enhancers	Osteobl	bone
7	chr2:151022600-151024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:151022600-151025400	Enhancers	HUVEC	blood vessel
9	chr2:151022600-151025400	Enhancers	NHEK	skin
10	chr2:151022600-151025800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:151022600-151026400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:151023000-151024000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:151023000-151024000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:151023000-151024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:151023000-151024200	Weak transcription	Stomach Mucosa	stomach
16	chr2:151023200-151024200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:151023200-151024200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:151023200-151024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:151023200-151024200	Weak transcription	Esophagus	oesophagus
20	chr2:151023200-151024200	Weak transcription	HSMM	muscle
21	chr2:151023200-151024200	Weak transcription	HSMMtube	muscle
22	chr2:151023200-151024200	Weak transcription	NHLF	lung
23	chr2:151023200-151025200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:151023200-151025400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:151023200-151026000	Weak transcription	Aorta	Aorta
26	chr2:151023200-151026000	Weak transcription	Pancreas	Pancrea
27	chr2:151023200-151026200	Enhancers	Hela-S3	cervix
28	chr2:151023400-151024200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:151023400-151025200	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:151023400-151025400	Enhancers	K562	blood
31	chr2:151023400-151026000	Enhancers	Liver	Liver
32	chr2:151023600-151024200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:151023600-151024200	Enhancers	A549	lung
34	chr2:151023600-151025400	Weak transcription	Adipose Nuclei	Adipose
35	chr2:151023800-151024000	Enhancers	Fetal Brain Male	brain

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