Variant report

Variant	rs16964694
Chromosome Location	chr15:52333308-52333309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52326795..52330431-chr15:52332202..52336988,5	K562	blood:
2	chr15:52310288..52313422-chr15:52332456..52335210,3	K562	blood:
3	chr15:52317535..52326388-chr15:52327451..52335331,11	K562	blood:
4	chr15:52331526..52333859-chr15:52340163..52342919,2	K562	blood:
5	chr15:52320626..52323301-chr15:52332648..52334173,2	MCF-7	breast:
6	chr15:52332465..52334999-chr15:52337431..52339850,2	K562	blood:
7	chr15:52323591..52325399-chr15:52331469..52333849,2	MCF-7	breast:
8	chr15:52310288..52312356-chr15:52333090..52335210,2	K562	blood:
9	chr15:52331117..52335082-chr15:52360597..52363150,3	K562	blood:
10	chr15:52308807..52313747-chr15:52329198..52338033,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000069956	Chromatin interaction
ENSG00000259398	Chromatin interaction
ENSG00000259438	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10152141	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10518675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16964700	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16964705	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16964720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17540338	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17612255	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17612326	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2001741	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2017967	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2246726	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2414120	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2414123	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441779	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470593	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470594	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2554321	0.80[MEX][hapmap]
rs2554340	0.86[ASN][1000 genomes]
rs2554341	0.80[MEX][hapmap]
rs2570218	0.80[MEX][hapmap]
rs2570242	0.80[MEX][hapmap]
rs2570250	0.80[MEX][hapmap]
rs2623250	0.80[MEX][hapmap]
rs2899484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3099571	0.86[ASN][1000 genomes]
rs4375608	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4456445	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4491448	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4774606	0.85[ASN][1000 genomes]
rs4775995	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4775996	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[ASN][1000 genomes]
rs4775997	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap]
rs55705935	0.85[ASN][1000 genomes]
rs55714716	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55873482	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56307802	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56677715	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58000475	0.90[ASN][1000 genomes]
rs58936667	0.85[ASN][1000 genomes]
rs61546369	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7177328	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs732097	0.89[CHB][hapmap]
rs7359204	0.88[ASN][1000 genomes]
rs74013636	0.88[ASN][1000 genomes]
rs74013638	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs74013640	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs74013641	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs74013642	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs74013644	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs74013645	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs74013646	0.98[ASN][1000 genomes]
rs74013647	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs74013648	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs74013653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013654	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs74013656	0.95[ASN][1000 genomes]
rs74013657	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013659	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74013661	0.85[ASN][1000 genomes]
rs7497554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs751560	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033365	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8033840	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8036048	0.93[ASN][1000 genomes]
rs8041281	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs919057	0.80[MEX][hapmap]
rs9796534	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs990666	0.80[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52312800-52345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
3	chr15:52325800-52334200	Weak transcription	Dnd41	blood
4	chr15:52325800-52342200	Weak transcription	HUVEC	blood vessel
5	chr15:52326800-52342800	Weak transcription	Fetal Brain Female	brain
6	chr15:52327000-52337200	Weak transcription	Primary B cells from cord blood	blood
7	chr15:52327000-52340600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:52327600-52340200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:52328000-52333800	Enhancers	K562	blood
10	chr15:52328200-52334200	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:52329800-52333800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:52329800-52334400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr15:52329800-52334800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr15:52330000-52335400	Enhancers	HepG2	liver
15	chr15:52330200-52333400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:52330600-52334000	Enhancers	Small Intestine	intestine
17	chr15:52330600-52334200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr15:52330600-52335400	Enhancers	Pancreas	Pancrea
19	chr15:52331000-52335400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:52331200-52334600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr15:52331200-52334600	Enhancers	Fetal Kidney	kidney
22	chr15:52331200-52334800	Genic enhancers	NHEK	skin
23	chr15:52331200-52335000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:52331400-52334400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr15:52331400-52335400	Enhancers	Brain Angular Gyrus	brain
26	chr15:52331600-52334400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:52331800-52333400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:52331800-52334200	Enhancers	Brain Anterior Caudate	brain
29	chr15:52331800-52335400	Enhancers	Ovary	ovary
30	chr15:52332000-52333400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:52332000-52334800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr15:52332200-52334000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr15:52332400-52348200	Weak transcription	Colonic Mucosa	Colon
34	chr15:52332600-52338200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:52332600-52340400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:52332600-52342400	Weak transcription	NHDF-Ad	bronchial
37	chr15:52332600-52349000	Weak transcription	Esophagus	oesophagus
38	chr15:52332600-52349400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr15:52332600-52350800	Weak transcription	Aorta	Aorta
40	chr15:52332600-52361800	Weak transcription	Gastric	stomach
41	chr15:52332800-52333600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:52332800-52334000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr15:52332800-52334200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr15:52332800-52334600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:52332800-52335400	Enhancers	Brain Substantia Nigra	brain
46	chr15:52332800-52336600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr15:52332800-52339600	Weak transcription	Fetal Intestine Large	intestine
48	chr15:52332800-52340400	Weak transcription	Brain Germinal Matrix	brain
49	chr15:52332800-52340400	Weak transcription	Placenta	Placenta
50	chr15:52332800-52344400	Weak transcription	Placenta Amnion	Placenta Amnion

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