Variant report

Variant	rs13410314
Chromosome Location	chr2:187453649-187453650
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	MAX	chr2:187453635-187455504	HepG2	liver:	n/a	chr2:187454495-187454505 chr2:187454499-187454508
2	MBD4	chr2:187453619-187454933	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:187453471-187456654	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr2:187453607-187453847	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:187350070..187352270-chr2:187452591..187455868,3	MCF-7	breast:
2	chr2:187350028..187353171-chr2:187452977..187457092,6	MCF-7	breast:
3	chr2:187350319..187353074-chr2:187452754..187457832,8	K562	blood:
4	chr2:187451176..187453820-chr2:187556844..187559816,2	K562	blood:

Variant related genes	Relation type
ITGAV	TF binding region
ENSG00000065548	Chromatin interaction
ENSG00000144369	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10153708	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196722	0.83[AMR][1000 genomes]
rs10202802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13386665	0.83[AMR][1000 genomes]
rs13396060	0.83[AMR][1000 genomes]
rs13403385	0.83[AMR][1000 genomes]
rs13405296	0.83[AMR][1000 genomes]
rs13419307	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16828044	0.83[AMR][1000 genomes]
rs16828048	0.83[AMR][1000 genomes]
rs16828049	0.83[AMR][1000 genomes]
rs56316122	0.83[AMR][1000 genomes]
rs56385600	1.00[AMR][1000 genomes]
rs59828675	0.83[AMR][1000 genomes]
rs6746367	0.83[AMR][1000 genomes]
rs6758885	0.83[AMR][1000 genomes]
rs73044325	0.83[AMR][1000 genomes]
rs73044336	0.83[AMR][1000 genomes]
rs73044342	0.83[AMR][1000 genomes]
rs73979316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981329	0.83[AMR][1000 genomes]
rs73981332	0.83[AMR][1000 genomes]
rs73981336	1.00[AMR][1000 genomes]
rs9973506	0.83[AMR][1000 genomes]
rs9973742	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1014203	chr2:187413781-187477586	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv536083	chr2:187413781-187477586	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv2756507	chr2:187416494-187470494	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv2756956	chr2:187416599-187492742	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv818105	chr2:187423298-187481835	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv2753217	chr2:187424494-187470494	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187435600-187453800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187442400-187453800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:187445800-187454200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:187450600-187453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:187450600-187453800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:187450800-187453800	Weak transcription	Adipose Nuclei	Adipose
7	chr2:187450800-187453800	Weak transcription	Fetal Intestine Large	intestine
8	chr2:187450800-187453800	Weak transcription	Right Ventricle	heart
9	chr2:187451200-187453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:187451800-187453800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:187452000-187453800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:187453000-187454000	Enhancers	Placenta	Placenta
13	chr2:187453200-187454000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:187453400-187453800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:187453400-187453800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:187453400-187453800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:187453400-187453800	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:187453400-187453800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:187453400-187453800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:187453400-187453800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:187453400-187453800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:187453400-187453800	Enhancers	Colonic Mucosa	Colon
23	chr2:187453400-187453800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:187453400-187453800	Enhancers	Fetal Intestine Small	intestine
25	chr2:187453400-187453800	Enhancers	Pancreas	Pancrea
26	chr2:187453400-187453800	Active TSS	Stomach Smooth Muscle	stomach
27	chr2:187453400-187453800	Enhancers	A549	lung
28	chr2:187453400-187453800	Enhancers	HUVEC	blood vessel
29	chr2:187453400-187454000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:187453400-187454000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr2:187453400-187454000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:187453400-187454000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:187453400-187454200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:187453400-187454200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:187453400-187454200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:187453400-187454200	Enhancers	Small Intestine	intestine
37	chr2:187453400-187454400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:187453400-187454400	Flanking Active TSS	NHEK	skin
39	chr2:187453400-187456800	Active TSS	Fetal Brain Female	brain
40	chr2:187453600-187453800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:187453600-187453800	Enhancers	Primary T cells from cord blood	blood
42	chr2:187453600-187453800	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:187453600-187453800	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr2:187453600-187453800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:187453600-187453800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr2:187453600-187453800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:187453600-187453800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:187453600-187453800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:187453600-187453800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:187453600-187453800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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