Variant report

Variant	rs57368496
Chromosome Location	chr2:54787191-54787192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54764431..54771229-chr2:54784220..54787609,7	MCF-7	breast:
2	chr2:54786959..54787772-chr6:86388101..86388994,2	Hela-S3	cervix:
3	chr2:54342843..54345092-chr2:54785975..54787644,2	K562	blood:
4	chr2:54786715..54789713-chr2:54890702..54893003,2	K562	blood:
5	chr12:6445562..6446227-chr2:54787047..54787677,2	Hela-S3	cervix:
6	chr10:123734176..123734706-chr2:54786768..54787716,2	Hela-S3	cervix:
7	chr2:54785770..54787299-chr2:54826149..54827905,2	K562	blood:
8	chr2:54342378..54344218-chr2:54786110..54788365,2	MCF-7	breast:
9	chr2:54749132..54757147-chr2:54784492..54789269,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000107672	Chromatin interaction
ENSG00000228108	Chromatin interaction
ENSG00000203875	Chromatin interaction
ENSG00000237887	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11892723	1.00[AMR][1000 genomes]
rs1963878	1.00[AMR][1000 genomes]
rs58722513	1.00[AMR][1000 genomes]
rs73932783	1.00[AMR][1000 genomes]
rs73934321	1.00[AMR][1000 genomes]
rs73934453	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934497	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv2731	chr2:54745069-54790057	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54784000-54788200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:54784200-54788400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:54784400-54788400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:54784600-54787800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:54784600-54787800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:54784600-54787800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:54784600-54787800	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr2:54784600-54788000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr2:54784600-54788200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:54784600-54788200	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr2:54784600-54788400	Active TSS	Thymus	Thymus
12	chr2:54784600-54788600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:54784600-54788800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:54784800-54787600	Active TSS	Gastric	stomach
15	chr2:54784800-54787800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:54784800-54787800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:54784800-54787800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:54784800-54787800	Active TSS	Esophagus	oesophagus
19	chr2:54784800-54788000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:54784800-54788000	Active TSS	Liver	Liver
21	chr2:54784800-54788200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:54784800-54788200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:54784800-54788200	Active TSS	Lung	lung
24	chr2:54784800-54788400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:54784800-54788400	Active TSS	Fetal Intestine Small	intestine
26	chr2:54784800-54788400	Active TSS	Pancreas	Pancrea
27	chr2:54784800-54788600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr2:54784800-54789000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:54784800-54789800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:54785000-54787600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:54785000-54787600	Active TSS	Primary T cells from cord blood	blood
32	chr2:54785000-54787800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:54785000-54787800	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:54785000-54787800	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr2:54785000-54787800	Active TSS	NHEK	skin
36	chr2:54785000-54788000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:54785000-54788000	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr2:54785000-54788000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr2:54785000-54788000	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr2:54785000-54788200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr2:54785000-54788200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr2:54785000-54788200	Active TSS	Primary B cells from peripheral blood	blood
43	chr2:54785000-54788200	Active TSS	Primary T cells fromperipheralblood	blood
44	chr2:54785000-54788200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:54785000-54788200	Active TSS	Fetal Thymus	thymus
46	chr2:54785000-54788200	Active TSS	Small Intestine	intestine
47	chr2:54785000-54788200	Bivalent/Poised TSS	HepG2	liver
48	chr2:54785000-54788200	Active TSS	K562	blood
49	chr2:54785000-54788400	Active TSS	Fetal Intestine Large	intestine
50	chr2:54785000-54788400	Active TSS	Hela-S3	cervix

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