Variant report

Variant	rs1770512
Chromosome Location	chr1:76223386-76223387
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	chr1:76222580..76224915-chr1:76228068..76230372,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1146572	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1146577	0.81[ASN][1000 genomes]
rs1146592	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1146593	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1146602	0.86[AMR][1000 genomes]
rs1146613	0.88[AMR][1000 genomes]
rs1146616	0.86[AMR][1000 genomes]
rs1250875	0.82[ASN][1000 genomes]
rs1250877	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1250878	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1251065	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1631498	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1767459	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1770513	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs699683	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs815309	0.80[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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:76202000-76225000	Weak transcription	Stomach Mucosa	stomach
3	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
4	chr1:76204800-76229000	Weak transcription	Psoas Muscle	Psoas
5	chr1:76208600-76223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:76208800-76231400	Weak transcription	A549	lung
7	chr1:76208800-76231400	Weak transcription	NHEK	skin
8	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
9	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
10	chr1:76209000-76230800	Weak transcription	NHLF	lung
11	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
12	chr1:76211600-76230800	Weak transcription	HMEC	breast
13	chr1:76217600-76231400	Weak transcription	Osteobl	bone
14	chr1:76219600-76230600	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:76220200-76223400	Weak transcription	K562	blood
16	chr1:76220800-76226400	Weak transcription	HepG2	liver
17	chr1:76220800-76228000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:76220800-76229600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:76221200-76223400	Weak transcription	Fetal Stomach	stomach
20	chr1:76221200-76223800	Weak transcription	Brain Germinal Matrix	brain
21	chr1:76221200-76224400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:76221200-76229600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:76221200-76229800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:76221200-76230200	Weak transcription	Small Intestine	intestine
25	chr1:76221200-76231400	Weak transcription	Gastric	stomach
26	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:76221400-76223400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:76221400-76223600	Weak transcription	Fetal Brain Female	brain
29	chr1:76221400-76229000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:76221400-76230000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:76221400-76230600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:76221400-76230600	Weak transcription	Colonic Mucosa	Colon
33	chr1:76221400-76231200	Weak transcription	NH-A	brain
34	chr1:76221400-76231400	Weak transcription	Pancreas	Pancrea
35	chr1:76221400-76233200	Weak transcription	Brain Anterior Caudate	brain
36	chr1:76221600-76223400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:76221600-76223400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:76221600-76223400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:76221600-76223400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:76221600-76223400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:76221600-76224600	Weak transcription	Spleen	Spleen
42	chr1:76221600-76227400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:76221600-76229000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:76221600-76229000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:76221600-76229400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:76221600-76230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:76221600-76230800	Weak transcription	Lung	lung
48	chr1:76221600-76231000	Weak transcription	Aorta	Aorta
49	chr1:76221600-76231000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:76221600-76231000	Weak transcription	Right Ventricle	heart

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