Variant report

Variant	rs17144492
Chromosome Location	chr7:21522713-21522714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11984085	0.84[ASN][1000 genomes]
rs17144470	0.87[EUR][1000 genomes]
rs17144480	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144489	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144497	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2390537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947298	1.00[ASN][1000 genomes]
rs73682610	1.00[EUR][1000 genomes]
rs73685140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7796350	0.84[ASN][1000 genomes]
rs9691700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
2	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
3	chr7:21491000-21526800	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
5	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
6	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
7	chr7:21493800-21529600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:21498200-21532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:21498600-21543600	Weak transcription	Pancreas	Pancrea
10	chr7:21500000-21530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:21500400-21529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:21501000-21527400	Weak transcription	Fetal Stomach	stomach
14	chr7:21501400-21528800	Weak transcription	Thymus	Thymus
15	chr7:21501400-21531000	Weak transcription	Fetal Intestine Large	intestine
16	chr7:21503200-21532400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:21503200-21532400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:21504000-21532800	Weak transcription	Lung	lung
19	chr7:21505600-21536600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:21505800-21527400	Weak transcription	Ovary	ovary
21	chr7:21506200-21529800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:21510200-21530200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:21510400-21525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:21510800-21531800	Weak transcription	Fetal Intestine Small	intestine
25	chr7:21511600-21531800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:21512800-21529800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:21514000-21536400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:21515400-21524000	Weak transcription	HSMM	muscle
29	chr7:21515400-21526400	Weak transcription	HepG2	liver
30	chr7:21515400-21528400	Weak transcription	Fetal Brain Male	brain
31	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
32	chr7:21516400-21522800	Strong transcription	Primary B cells from cord blood	blood
33	chr7:21516400-21530400	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:21516600-21526000	Weak transcription	Fetal Heart	heart
35	chr7:21516800-21525000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:21517400-21532200	Weak transcription	A549	lung
38	chr7:21518000-21532400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:21518200-21529800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:21518200-21530200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:21518200-21532200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:21518200-21536400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:21518200-21536400	Weak transcription	Fetal Kidney	kidney
44	chr7:21518600-21530000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:21518800-21532000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:21519200-21523400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:21519200-21529800	Weak transcription	Brain Germinal Matrix	brain
48	chr7:21520200-21525000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr7:21520400-21523600	Weak transcription	K562	blood
50	chr7:21520400-21525800	Weak transcription	Primary hematopoietic stem cells	blood

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