Variant report

Variant	rs12738298
Chromosome Location	chr1:160783794-160783795
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10158850	0.81[ASN][1000 genomes]
rs12061248	0.81[ASN][1000 genomes]
rs12061252	0.81[ASN][1000 genomes]
rs12354234	0.81[ASN][1000 genomes]
rs1412848	0.81[ASN][1000 genomes]
rs34984882	0.81[ASN][1000 genomes]
rs3766381	0.81[ASN][1000 genomes]
rs471256	0.89[ASN][1000 genomes]
rs505891	0.89[ASN][1000 genomes]
rs55653503	0.81[ASN][1000 genomes]
rs55709726	0.81[ASN][1000 genomes]
rs558806	0.89[ASN][1000 genomes]
rs56337978	0.81[ASN][1000 genomes]
rs577260	0.89[ASN][1000 genomes]
rs60785032	1.00[AMR][1000 genomes]
rs6696695	0.81[ASN][1000 genomes]
rs6701362	1.00[AMR][1000 genomes]
rs7554869	1.00[AMR][1000 genomes]
rs9660300	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160771000-160806600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:160777400-160789000	Strong transcription	Primary B cells from cord blood	blood
3	chr1:160778000-160783800	Weak transcription	Spleen	Spleen
4	chr1:160778000-160795600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:160778000-160798400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr1:160778400-160799600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:160779800-160789200	Strong transcription	Primary T cells from cord blood	blood
8	chr1:160780000-160789800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:160780800-160787800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:160781000-160787600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:160781000-160789000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:160781600-160787800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:160782400-160798200	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:160782600-160783800	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr1:160782600-160803200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:160782800-160783800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:160782800-160784000	Enhancers	NHEK	skin
18	chr1:160782800-160784200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:160782800-160789200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:160782800-160789600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:160783000-160783800	Enhancers	Stomach Mucosa	stomach
22	chr1:160783000-160788000	Strong transcription	Fetal Thymus	thymus
23	chr1:160783000-160788000	Strong transcription	Thymus	Thymus
24	chr1:160783200-160783800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:160783200-160783800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:160783200-160786200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:160783200-160788200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:160783400-160783800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:160783400-160783800	Enhancers	Gastric	stomach
30	chr1:160783400-160789400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:160783400-160791000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:160783600-160783800	Enhancers	A549	lung
33	chr1:160783600-160790000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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