Variant report

Variant	rs796407
Chromosome Location	chr1:150913192-150913193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10305668	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10788793	1.00[AMR][1000 genomes]
rs10788796	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11204732	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13376166	1.00[ASN][1000 genomes]
rs267727	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs267728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28498299	1.00[ASN][1000 genomes]
rs4970975	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6587538	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6661777	1.00[ASN][1000 genomes]
rs7526690	1.00[AMR][1000 genomes]
rs7533914	1.00[AMR][1000 genomes];1.00[ASN][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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150899400-150915000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150899600-150913200	Weak transcription	Aorta	Aorta
3	chr1:150899600-150913200	Weak transcription	Right Ventricle	heart
4	chr1:150899600-150913600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:150899600-150943400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:150900000-150913400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:150900000-150915200	Weak transcription	Esophagus	oesophagus
8	chr1:150900200-150941800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:150900400-150928400	Strong transcription	Liver	Liver
10	chr1:150900400-150941000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:150900400-150942600	Weak transcription	Stomach Mucosa	stomach
12	chr1:150900400-150944200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:150901000-150941600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:150901600-150941600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr1:150902400-150917600	Strong transcription	HSMM	muscle
16	chr1:150903400-150915000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:150903400-150917000	Weak transcription	Fetal Heart	heart
18	chr1:150903600-150913800	Weak transcription	HMEC	breast
19	chr1:150903600-150914800	Weak transcription	Pancreas	Pancrea
20	chr1:150903600-150919600	Weak transcription	Psoas Muscle	Psoas
21	chr1:150903600-150941600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:150903600-150942200	Strong transcription	Dnd41	blood
23	chr1:150903600-150942800	Strong transcription	Fetal Stomach	stomach
24	chr1:150903600-150943000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:150903600-150943200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:150903800-150915000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:150903800-150915400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:150903800-150942600	Strong transcription	Fetal Thymus	thymus
29	chr1:150904000-150913200	Weak transcription	Gastric	stomach
30	chr1:150904000-150930600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:150904400-150915000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:150904400-150940800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:150904600-150942200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:150904600-150942400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:150904600-150942400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:150904600-150943400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:150904800-150936400	Strong transcription	Placenta	Placenta
38	chr1:150904800-150940800	Strong transcription	Fetal Intestine Large	intestine
39	chr1:150904800-150941800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr1:150904800-150941800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:150905000-150913800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:150905000-150941800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:150905000-150942000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:150905000-150942400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:150905000-150943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:150905400-150913600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:150905400-150916400	Strong transcription	Fetal Intestine Small	intestine
48	chr1:150905400-150942800	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:150905600-150942000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:150906000-150913600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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