Variant report

Variant	rs17138152
Chromosome Location	chr7:65703922-65703923
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65703885..65706000-chr7:65711760..65714704,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11976631	0.80[YRI][hapmap]
rs11978432	1.00[TSI][hapmap]
rs17138177	1.00[EUR][1000 genomes]
rs60128141	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6460280	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7790626	1.00[EUR][1000 genomes]
rs7791750	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7806893	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7809997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65672200-65723400	Weak transcription	Right Atrium	heart
2	chr7:65676000-65716800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:65686800-65715400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:65689600-65715800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:65695800-65709400	Weak transcription	Psoas Muscle	Psoas
6	chr7:65697000-65705400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:65697000-65705400	Weak transcription	Fetal Stomach	stomach
8	chr7:65699000-65712400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:65701600-65729200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:65701800-65704200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:65701800-65704400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:65701800-65704400	Enhancers	Liver	Liver
13	chr7:65701800-65704400	Enhancers	NHDF-Ad	bronchial
14	chr7:65701800-65704600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:65701800-65704600	Enhancers	Fetal Lung	lung
16	chr7:65702000-65704200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr7:65702000-65704400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:65702000-65704600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:65702200-65704400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:65702200-65705200	Weak transcription	HMEC	breast
21	chr7:65702200-65705400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:65702200-65705400	Weak transcription	NHEK	skin
23	chr7:65702200-65705600	Weak transcription	Esophagus	oesophagus
24	chr7:65702200-65705600	Weak transcription	Right Ventricle	heart
25	chr7:65702200-65705600	Weak transcription	Spleen	Spleen
26	chr7:65702200-65711200	Weak transcription	Brain Anterior Caudate	brain
27	chr7:65702400-65704000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr7:65702400-65704200	Enhancers	Colon Smooth Muscle	Colon
29	chr7:65702400-65705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:65702400-65705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:65702400-65723600	Weak transcription	Gastric	stomach
32	chr7:65702600-65704400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:65702800-65704200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:65702800-65705200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:65702800-65705400	Weak transcription	Left Ventricle	heart
36	chr7:65702800-65705400	Weak transcription	Lung	lung
37	chr7:65703000-65715800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:65703200-65704400	Enhancers	Fetal Intestine Small	intestine
39	chr7:65703400-65704000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:65703400-65704400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:65703400-65704600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:65703400-65704600	Enhancers	Fetal Intestine Large	intestine
43	chr7:65703600-65704000	Flanking Active TSS	HepG2	liver
44	chr7:65703600-65704400	Enhancers	Stomach Mucosa	stomach
45	chr7:65703600-65704400	Enhancers	HSMMtube	muscle
46	chr7:65703600-65704800	Enhancers	NHLF	lung
47	chr7:65703800-65704000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:65703800-65704000	Flanking Active TSS	Rectal Smooth Muscle	rectum
49	chr7:65703800-65704000	Enhancers	Osteobl	bone
50	chr7:65703800-65704200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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