Variant report

Variant	rs74013647
Chromosome Location	chr15:52330710-52330711
allele	A/G
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	chr15:52317535..52326388-chr15:52327451..52335331,11	K562	blood:
2	chr15:52309828..52312654-chr15:52330668..52332262,2	K562	blood:
3	chr15:52329669..52331948-chr15:52362152..52363907,2	MCF-7	breast:
4	chr15:52308640..52315286-chr15:52329805..52332909,7	K562	blood:
5	chr15:52327199..52328744-chr15:52329099..52330957,2	MCF-7	breast:
6	chr15:52327906..52330801-chr15:52336087..52340276,6	MCF-7	breast:
7	chr15:52320796..52323655-chr15:52329360..52331417,2	MCF-7	breast:
8	chr15:52262470..52265105-chr15:52328172..52331590,3	K562	blood:
9	chr15:52262855..52265387-chr15:52330174..52332552,2	MCF-7	breast:
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
ENSG00000166477	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10152141	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10518675	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324384	0.83[EUR][1000 genomes]
rs12324807	0.83[EUR][1000 genomes]
rs13379854	0.83[EUR][1000 genomes]
rs16964694	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16964700	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16964705	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16964720	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17540338	0.85[ASN][1000 genomes]
rs17612255	0.93[ASN][1000 genomes]
rs17612326	0.85[ASN][1000 genomes]
rs2001741	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2017967	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246726	0.86[ASN][1000 genomes]
rs2306793	1.00[EUR][1000 genomes]
rs2414120	0.84[ASN][1000 genomes]
rs2414123	0.98[ASN][1000 genomes]
rs2441779	0.86[ASN][1000 genomes]
rs2470593	0.86[ASN][1000 genomes]
rs2470594	0.86[ASN][1000 genomes]
rs2470595	0.88[ASN][1000 genomes]
rs2554340	0.84[ASN][1000 genomes]
rs2899484	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3099571	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4375608	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4456445	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4774606	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4775993	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4775995	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775996	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55705935	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55714716	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs55873482	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56307802	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56677715	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58000475	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58936667	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61546369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7177328	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7359204	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74013636	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74013638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013640	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74013644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013645	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013646	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013653	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs74013654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74013656	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74013657	0.93[ASN][1000 genomes]
rs74013659	0.85[ASN][1000 genomes]
rs74013661	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7497554	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs751560	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8027276	0.83[EUR][1000 genomes]
rs8033365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8033840	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8036048	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8041281	0.86[ASN][1000 genomes]
rs9796534	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]

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:114 , 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	chr15:52314600-52332200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:52314800-52331200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr15:52315200-52331800	Weak transcription	Colonic Mucosa	Colon
6	chr15:52315600-52332200	Weak transcription	NHLF	lung
7	chr15:52316000-52332200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:52317400-52332200	Weak transcription	Lung	lung
9	chr15:52321200-52332200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:52321400-52331800	Weak transcription	Primary T cells from cord blood	blood
11	chr15:52322400-52331400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:52322400-52332200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:52322400-52332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr15:52322800-52331200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:52322800-52331400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:52322800-52331400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:52322800-52332400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr15:52325600-52331200	Weak transcription	Esophagus	oesophagus
19	chr15:52325800-52331200	Weak transcription	Gastric	stomach
20	chr15:52325800-52331800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:52325800-52332000	Weak transcription	Fetal Lung	lung
22	chr15:52325800-52332200	Weak transcription	Aorta	Aorta
23	chr15:52325800-52332200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:52325800-52334200	Weak transcription	Dnd41	blood
25	chr15:52325800-52342200	Weak transcription	HUVEC	blood vessel
26	chr15:52326000-52331200	Weak transcription	Fetal Kidney	kidney
27	chr15:52326000-52331400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:52326000-52332000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:52326000-52332000	Weak transcription	Thymus	Thymus
30	chr15:52326000-52332200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:52326800-52331400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr15:52326800-52331600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:52326800-52331800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:52326800-52342800	Weak transcription	Fetal Brain Female	brain
35	chr15:52327000-52331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:52327000-52331800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:52327000-52337200	Weak transcription	Primary B cells from cord blood	blood
38	chr15:52327000-52340600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:52327200-52331200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:52327200-52331200	Weak transcription	Fetal Intestine Small	intestine
41	chr15:52327200-52331400	Weak transcription	HMEC	breast
42	chr15:52327200-52331800	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:52327200-52331800	Weak transcription	Fetal Thymus	thymus
44	chr15:52327200-52332200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:52327400-52331800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:52327400-52332000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:52327400-52332200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:52327400-52332200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:52327600-52331200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:52327600-52331400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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