Variant report

Variant	rs17691284
Chromosome Location	chr2:148628003-148628004
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	chr2:148626522..148628256-chr2:148630223..148632978,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1424941	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1469211	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17218938	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17225402	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17225423	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17225430	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17232078	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17692648	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17741344	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17741978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17742134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17742246	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17742342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17743157	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3754541	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820715	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62169472	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169473	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169474	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169475	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62169477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169479	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62169480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs721344	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs730356	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7560502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595052	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7602296	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs929940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981814	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148613000-148640800	Weak transcription	Lung	lung
2	chr2:148613200-148631400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:148616800-148636200	Weak transcription	Small Intestine	intestine
4	chr2:148620000-148634000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:148620600-148634200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:148620800-148640000	Weak transcription	Adipose Nuclei	Adipose
7	chr2:148621200-148633600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:148621400-148633200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:148621400-148637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:148621600-148631400	Weak transcription	Stomach Mucosa	stomach
11	chr2:148621600-148641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:148623600-148642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:148625400-148628200	Enhancers	Psoas Muscle	Psoas
14	chr2:148625400-148631000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:148625600-148631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:148625600-148634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:148625600-148638200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:148625800-148628200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:148625800-148634200	Weak transcription	HSMMtube	muscle
20	chr2:148625800-148638400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:148626000-148637000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:148626600-148639800	Weak transcription	Left Ventricle	heart
23	chr2:148626800-148628200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:148626800-148628400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:148626800-148628400	Enhancers	Colon Smooth Muscle	Colon
26	chr2:148627000-148628200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr2:148627000-148628200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:148627000-148629400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:148627000-148631800	Weak transcription	HUVEC	blood vessel
30	chr2:148627200-148632800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:148627400-148628200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:148627400-148628200	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:148627400-148628200	Enhancers	Right Atrium	heart
34	chr2:148627400-148628200	Enhancers	Right Ventricle	heart
35	chr2:148627400-148628400	Enhancers	Fetal Brain Male	brain
36	chr2:148627400-148628800	Enhancers	Gastric	stomach
37	chr2:148627400-148629000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:148627600-148628400	Enhancers	Brain Angular Gyrus	brain
39	chr2:148627600-148628400	Enhancers	Brain Germinal Matrix	brain
40	chr2:148627600-148628600	Weak transcription	Fetal Brain Female	brain
41	chr2:148627600-148629800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:148627600-148633200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:148627800-148633000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:148628000-148628200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:148628000-148628200	Enhancers	Fetal Intestine Small	intestine
46	chr2:148628000-148628200	Enhancers	HMEC	breast

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