Variant report

Variant	rs4535683
Chromosome Location	chr7:138240340-138240341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11761566	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12707388	0.85[EUR][1000 genomes]
rs2353353	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3213902	0.82[EUR][1000 genomes]
rs6467774	0.81[ASN][1000 genomes]
rs6467777	0.81[EUR][1000 genomes]
rs6467779	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6946420	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962037	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7782453	0.81[EUR][1000 genomes]
rs7803989	0.85[EUR][1000 genomes]
rs7811152	0.80[AMR][1000 genomes];0.85[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138213000-138244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:138220200-138240400	Weak transcription	Psoas Muscle	Psoas
3	chr7:138221200-138241400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:138225400-138242000	Weak transcription	A549	lung
5	chr7:138227000-138241200	Weak transcription	Hela-S3	cervix
6	chr7:138228400-138252600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:138231200-138240600	Weak transcription	NHLF	lung
8	chr7:138232200-138241600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:138232600-138241600	Strong transcription	HepG2	liver
10	chr7:138233800-138240400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr7:138233800-138240400	Strong transcription	Fetal Heart	heart
12	chr7:138234400-138240600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:138234600-138240600	Weak transcription	NHEK	skin
14	chr7:138234600-138243600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr7:138234800-138241000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:138234800-138241400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:138235000-138240600	Strong transcription	HUVEC	blood vessel
18	chr7:138235000-138248600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:138235000-138257400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:138235200-138240600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:138235200-138240800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:138235200-138241200	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:138235200-138241200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr7:138235200-138241600	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:138235400-138241400	Strong transcription	Liver	Liver
26	chr7:138235600-138240600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:138235600-138241400	Strong transcription	Brain Hippocampus Middle	brain
28	chr7:138235600-138245200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:138235800-138240600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:138235800-138240600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:138235800-138240600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:138235800-138240600	Strong transcription	HSMM	muscle
33	chr7:138235800-138240800	Strong transcription	Brain Angular Gyrus	brain
34	chr7:138235800-138243800	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr7:138235800-138253000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:138235800-138253200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr7:138236000-138240600	Strong transcription	NH-A	brain
38	chr7:138236000-138254200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:138236200-138240600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:138236600-138242600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
41	chr7:138236800-138242400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr7:138236800-138243400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr7:138236800-138250800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr7:138237000-138243200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr7:138237000-138251200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
46	chr7:138237000-138251600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:138237000-138252400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr7:138237200-138252600	ZNF genes & repeats	Dnd41	blood
49	chr7:138237400-138245200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr7:138237400-138251400	ZNF genes & repeats	Primary B cells from cord blood	blood

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