Variant report

Variant	rs11638897
Chromosome Location	chr15:72771280-72771281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72770873-72771342	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:72770766-72771509	A549	lung:	n/a	n/a
3	POLR2A	chr15:72770834-72771755	HepG2	liver:	n/a	n/a
4	WRNIP1	chr15:72770983-72771281	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72769981..72772398-chr15:72784193..72786269,2	MCF-7	breast:
2	chr15:72770833..72775652-chr15:72776654..72780093,7	K562	blood:
3	chr15:72770687..72773581-chr15:72777521..72779996,2	MCF-7	breast:
4	chr15:72770264..72772292-chr15:72776919..72779062,2	K562	blood:

Variant related genes	Relation type
ENSG00000261423	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10438370	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518988	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744963	0.80[AMR][1000 genomes]
rs11072365	0.81[AMR][1000 genomes]
rs11072372	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11072376	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1133316	0.81[AMR][1000 genomes]
rs11631125	0.85[AMR][1000 genomes]
rs11855682	0.85[AMR][1000 genomes]
rs12439127	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12900846	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901966	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12908610	0.85[AMR][1000 genomes]
rs1562250	0.80[AFR][1000 genomes]
rs16956956	0.82[EUR][1000 genomes]
rs16956988	0.91[ASN][1000 genomes]
rs16957064	0.82[EUR][1000 genomes]
rs16957095	0.82[EUR][1000 genomes]
rs1812842	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963894	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2415135	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415136	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415137	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415139	0.83[AMR][1000 genomes]
rs28393893	0.89[EUR][1000 genomes]
rs28429820	0.83[ASN][1000 genomes]
rs28607101	0.83[ASN][1000 genomes]
rs3842946	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146286	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776602	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776603	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777514	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777516	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4777517	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57155740	0.91[ASN][1000 genomes]
rs57769940	0.83[ASN][1000 genomes]
rs58110372	0.91[ASN][1000 genomes]
rs59029026	0.83[ASN][1000 genomes]
rs60106752	0.91[ASN][1000 genomes]
rs60207997	0.91[ASN][1000 genomes]
rs60702445	0.82[EUR][1000 genomes]
rs7162856	0.82[EUR][1000 genomes]
rs7174307	0.91[ASN][1000 genomes]
rs7175437	0.91[ASN][1000 genomes]
rs7177472	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72735137	0.82[EUR][1000 genomes]
rs72735139	0.82[EUR][1000 genomes]
rs72735141	0.82[EUR][1000 genomes]
rs72735156	0.82[EUR][1000 genomes]
rs72735160	0.82[EUR][1000 genomes]
rs72735166	0.82[EUR][1000 genomes]
rs72735170	0.82[EUR][1000 genomes]
rs73442591	0.91[ASN][1000 genomes]
rs73442595	0.91[ASN][1000 genomes]
rs73444703	0.91[ASN][1000 genomes]
rs73444714	0.91[ASN][1000 genomes]
rs73444720	0.91[ASN][1000 genomes]
rs73444723	0.91[ASN][1000 genomes]
rs73444736	0.91[ASN][1000 genomes]
rs73444755	0.91[ASN][1000 genomes]
rs73444759	0.91[ASN][1000 genomes]
rs73444761	0.91[ASN][1000 genomes]
rs73444773	0.91[ASN][1000 genomes]
rs73444774	0.91[ASN][1000 genomes]
rs73444791	0.91[ASN][1000 genomes]
rs73444794	0.91[ASN][1000 genomes]
rs73444798	0.91[ASN][1000 genomes]
rs73444802	0.91[ASN][1000 genomes]
rs73446604	0.91[ASN][1000 genomes]
rs8025088	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026681	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035007	0.91[ASN][1000 genomes]
rs8037282	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038734	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
3	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
6	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 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	chr15:72768200-72772800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:72768200-72775400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:72768400-72771400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:72768400-72771800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:72768400-72773800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:72768400-72775200	Weak transcription	Aorta	Aorta
7	chr15:72768400-72776000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:72768400-72785400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:72768400-72793400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:72768800-72771400	Genic enhancers	Rectal Mucosa Donor 29	rectum
11	chr15:72768800-72771400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr15:72768800-72772000	Enhancers	Brain Angular Gyrus	brain
13	chr15:72769000-72771400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr15:72769000-72771600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:72769000-72775400	Weak transcription	Esophagus	oesophagus
16	chr15:72769000-72775400	Weak transcription	Pancreas	Pancrea
17	chr15:72769000-72775600	Weak transcription	Colonic Mucosa	Colon
18	chr15:72769200-72771400	Genic enhancers	Primary T cells from cord blood	blood
19	chr15:72769200-72771400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:72769200-72771400	Genic enhancers	Dnd41	blood
21	chr15:72769200-72772000	Enhancers	Stomach Smooth Muscle	stomach
22	chr15:72769200-72774200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:72769200-72777600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:72769200-72778600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr15:72769200-72779200	Weak transcription	NHLF	lung
26	chr15:72769200-72792000	Weak transcription	Fetal Kidney	kidney
27	chr15:72769400-72771400	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr15:72769400-72772000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:72769400-72773600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr15:72769600-72771600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr15:72769600-72772200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:72769600-72772800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:72769600-72773400	Weak transcription	Small Intestine	intestine
34	chr15:72769600-72773800	Weak transcription	Right Atrium	heart
35	chr15:72769600-72775800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:72769600-72777600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:72769600-72779600	Weak transcription	Stomach Mucosa	stomach
38	chr15:72769600-72779600	Weak transcription	HSMMtube	muscle
39	chr15:72769600-72797000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr15:72769600-72832200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:72769800-72771400	Strong transcription	NHDF-Ad	bronchial
42	chr15:72769800-72771400	Strong transcription	NHEK	skin
43	chr15:72769800-72771600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:72769800-72771600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:72769800-72771600	Enhancers	Adipose Nuclei	Adipose
46	chr15:72769800-72771600	Strong transcription	Osteobl	bone
47	chr15:72769800-72771800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr15:72769800-72772600	Weak transcription	Fetal Brain Male	brain
49	chr15:72769800-72773200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:72769800-72773800	Strong transcription	Monocytes-CD14+_RO01746	blood

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