Variant report

Variant	rs73164647
Chromosome Location	chr7:138252759-138252760
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	chr7:138245855..138248023-chr7:138249211..138253236,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11761566	1.00[ASN][1000 genomes]
rs11763093	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11769924	0.93[EUR][1000 genomes]
rs11773577	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13231090	0.85[EUR][1000 genomes]
rs13234062	0.88[EUR][1000 genomes]
rs33935215	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34718165	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35674497	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36099217	0.84[EUR][1000 genomes]
rs55918517	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67586210	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71541397	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138235000-138257400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:138235800-138253000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:138235800-138253200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr7:138236000-138254200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:138238400-138253600	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr7:138242600-138272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:138246800-138252800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr7:138250200-138253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:138250200-138255200	Weak transcription	Hela-S3	cervix
10	chr7:138250200-138255600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:138250200-138273800	Weak transcription	Gastric	stomach
12	chr7:138250400-138267600	Weak transcription	NHLF	lung
13	chr7:138250400-138272000	Weak transcription	Small Intestine	intestine
14	chr7:138250400-138273000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:138250600-138253000	Weak transcription	Aorta	Aorta
16	chr7:138250600-138263800	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:138250600-138264000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:138250600-138270600	Weak transcription	Fetal Brain Male	brain
19	chr7:138250600-138271800	Weak transcription	Right Ventricle	heart
20	chr7:138250600-138273000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:138250600-138273400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:138250800-138252800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:138250800-138253000	Strong transcription	NH-A	brain
24	chr7:138250800-138253800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:138250800-138254000	Strong transcription	Fetal Kidney	kidney
26	chr7:138250800-138255000	Weak transcription	Brain Angular Gyrus	brain
27	chr7:138250800-138255400	Weak transcription	Brain Anterior Caudate	brain
28	chr7:138250800-138255400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:138250800-138255600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:138250800-138255600	Weak transcription	Brain Substantia Nigra	brain
31	chr7:138250800-138255600	Weak transcription	Pancreas	Pancrea
32	chr7:138250800-138258000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:138250800-138263800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:138250800-138264000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:138250800-138272400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:138250800-138272600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr7:138250800-138273200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:138251000-138253600	Strong transcription	Fetal Stomach	stomach
39	chr7:138251000-138253800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:138251000-138253800	Weak transcription	Ovary	ovary
41	chr7:138251000-138255000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:138251000-138255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:138251000-138255600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:138251000-138257800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:138251000-138264000	Weak transcription	Psoas Muscle	Psoas
46	chr7:138251000-138267800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:138251000-138272800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:138251000-138272800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:138251200-138253000	Weak transcription	Lung	lung
50	chr7:138251200-138255400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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