Variant report

Variant	rs10246181
Chromosome Location	chr7:152517854-152517855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10249394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10259642	0.87[AMR][1000 genomes]
rs10259830	0.87[AMR][1000 genomes]
rs10271502	1.00[AMR][1000 genomes]
rs17134536	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28432749	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7794914	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv532222	chr7:152504090-153450290	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv981617	chr7:152517347-152517945	Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152482800-152518600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:152488800-152545600	Weak transcription	Primary T cells from cord blood	blood
3	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
4	chr7:152491600-152520200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:152493000-152518600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:152493200-152518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:152497600-152549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:152498400-152528200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:152498400-152556000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:152498400-152559200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:152498600-152520000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:152498600-152526800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:152498800-152518600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:152498800-152518800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:152498800-152520000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:152498800-152520600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:152498800-152539600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:152499200-152546800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:152499800-152520200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:152500600-152520000	Weak transcription	Fetal Intestine Large	intestine
21	chr7:152500600-152556000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:152501400-152550400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:152501600-152518600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:152502000-152539200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:152504000-152555000	Weak transcription	K562	blood
26	chr7:152508400-152549200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:152509200-152551200	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:152509600-152520600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:152510200-152534000	Weak transcription	Fetal Thymus	thymus
30	chr7:152510200-152569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:152511000-152518800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:152511200-152528000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:152511600-152522800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:152511600-152526600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:152513000-152520400	Weak transcription	Fetal Lung	lung
36	chr7:152513200-152519400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:152513200-152520600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:152513400-152549200	Weak transcription	Placenta	Placenta
39	chr7:152513400-152550400	Weak transcription	Esophagus	oesophagus
40	chr7:152513600-152546000	Weak transcription	Spleen	Spleen
41	chr7:152514000-152520400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:152514400-152549400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:152514400-152554800	Weak transcription	Osteobl	bone
44	chr7:152514800-152555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:152515600-152518800	Strong transcription	Left Ventricle	heart
46	chr7:152515600-152521800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:152515800-152518000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:152516000-152518400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:152516000-152519800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:152516200-152518000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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