Variant report

Variant	rs2253758
Chromosome Location	chr7:112753209-112753210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112428147..112430239-chr7:112752255..112754378,2	K562	blood:
2	chr7:112653832..112655497-chr7:112753115..112754776,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1006118	0.96[ASN][1000 genomes]
rs10085894	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1009814	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241110	0.96[ASN][1000 genomes]
rs2248897	0.88[YRI][hapmap]
rs2248906	0.88[YRI][hapmap]
rs2253499	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2699401	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56992766	0.91[ASN][1000 genomes]
rs73207971	0.91[ASN][1000 genomes]
rs7778565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7786391	0.96[ASN][1000 genomes]
rs7809250	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1022066	chr7:112630168-113122748	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539090	chr7:112630168-113122748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112740400-112756000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:112740600-112757600	Weak transcription	Right Atrium	heart
3	chr7:112740600-112758000	Weak transcription	Aorta	Aorta
4	chr7:112741000-112757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:112743000-112757800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:112743400-112754200	Weak transcription	Fetal Heart	heart
7	chr7:112748800-112757600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:112748800-112757600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:112749000-112757400	Weak transcription	Left Ventricle	heart
10	chr7:112749200-112757400	Weak transcription	Psoas Muscle	Psoas
11	chr7:112749200-112757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:112749600-112754200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:112749600-112757400	Weak transcription	HMEC	breast
14	chr7:112749800-112753400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:112749800-112754000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:112749800-112755600	Weak transcription	Placenta	Placenta
17	chr7:112749800-112757600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:112750000-112757400	Weak transcription	NHEK	skin
19	chr7:112750200-112755200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:112750200-112757400	Weak transcription	NHLF	lung
21	chr7:112750400-112755600	Weak transcription	NH-A	brain
22	chr7:112750400-112757200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:112750400-112757800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:112750600-112754200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:112750600-112757400	Weak transcription	Osteobl	bone
26	chr7:112750800-112754400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:112750800-112757800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:112750800-112757800	Weak transcription	Fetal Stomach	stomach
29	chr7:112751000-112757400	Weak transcription	HUVEC	blood vessel
30	chr7:112751000-112757400	Weak transcription	NHDF-Ad	bronchial
31	chr7:112751000-112758200	Weak transcription	Lung	lung
32	chr7:112751200-112755600	Weak transcription	Ovary	ovary
33	chr7:112751200-112757800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:112751200-112758200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:112751400-112757400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:112751400-112757600	Weak transcription	Primary T cells from cord blood	blood
37	chr7:112751600-112755400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:112751600-112756200	Weak transcription	Gastric	stomach
39	chr7:112751600-112757400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:112751600-112757400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:112751600-112757600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:112751800-112754000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:112751800-112755400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:112751800-112757200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:112751800-112757400	Weak transcription	Brain Anterior Caudate	brain
46	chr7:112751800-112757400	Weak transcription	HSMMtube	muscle
47	chr7:112751800-112757800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:112751800-112757800	Weak transcription	Small Intestine	intestine
49	chr7:112752000-112755600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:112752000-112756000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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