Variant report

Variant	rs7592669
Chromosome Location	chr2:153550668-153550669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:153549391-153550761	K562	blood:	n/a	n/a
2	IRF1	chr2:153550506-153551638	K562	blood:	n/a	chr2:153551140-153551154
3	POLR2A	chr2:153550668-153550809	A549	lung:	n/a	n/a
4	MXI1	chr2:153550524-153551364	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:153550624-153550674	AoSMC	blood vessel:	n/a
2	chr2:153550624-153550674	HCM	heart:	n/a
3	chr2:153550624-153550674	ProgFib	skin:	n/a
4	chr2:153550624-153550674	HNPCEpiC	eye:	n/a
5	chr2:153550624-153550674	NHBE	bronchial:	n/a
6	chr2:153550624-153550674	ovcar-3	ovarian:	n/a
7	chr2:153550624-153550674	HEEpiC	esophagus:	n/a
8	chr2:153550624-153550674	HL-60	blood:	n/a
9	chr2:153550624-153550674	GM06990	blood:	n/a
10	chr2:153550624-153550674	GM12892	blood:	n/a
11	chr2:153550624-153550674	K562	blood:	n/a
12	chr2:153550624-153550674	HCPEpiC	choroid plexus:	n/a
13	chr2:153550624-153550674	MCF-7	breast:	n/a
14	chr2:153550624-153550674	HRPEpiC	eye:	n/a
15	chr2:153550624-153550674	Hela-S3	cervix:	n/a
16	chr2:153550624-153550674	HEK293	kidney:	embryo
17	chr2:153550624-153550674	AG04449	skin:	fetal
18	chr2:153550624-153550674	NHDF-neo	bronchial:	n/a
19	chr2:153550624-153550674	HCT-116	colon:	n/a
20	chr2:153550624-153550674	NH-A	brain:	n/a
21	chr2:153550624-153550674	GM12878	blood:	n/a
22	chr2:153550624-153550674	HAEpiC	amniotic membrane:	n/a
23	chr2:153550624-153550674	AG10803	skin:	n/a
24	chr2:153550624-153550674	AG09319	gingival:	n/a
25	chr2:153550624-153550674	BJ	skin:	n/a
26	chr2:153550624-153550674	IMR90	lung:	fetal
27	chr2:153550624-153550674	A549	lung:	n/a
28	chr2:153550624-153550674	LNCaP	prostate:	n/a
29	chr2:153550624-153550674	BE2_C	brain:	n/a
30	chr2:153550624-153550674	NT2-D1	testis:	n/a
31	chr2:153550624-153550674	HCF	heart:	n/a
32	chr2:153550624-153550674	PFSK-1	brain:	n/a
33	chr2:153550624-153550674	Hepatocyte	liver:	n/a
34	chr2:153550624-153550674	PrEC	prostate:	n/a
35	chr2:153550624-153550674	HUVEC	blood vessel:	n/a
36	chr2:153550624-153550674	AG04450	lung:	fetal
37	chr2:153550624-153550674	SAEC	small airway:	n/a
38	chr2:153550624-153550674	HRE	kidney:	n/a
39	chr2:153550624-153550674	HMEC	breast:	n/a
40	chr2:153550624-153550674	Jurkat	blood:	n/a
41	chr2:153550624-153550674	RPTEC	kidney:	n/a
42	chr2:153550624-153550674	SK-N-MC	brain:	n/a
43	chr2:153550624-153550674	AG09309	skin:	n/a
44	chr2:153550624-153550674	SK-N-SH_RA	brain:	n/a
45	chr2:153550624-153550674	HepG2	liver:	n/a
46	chr2:153550624-153550674	HIPEpiC	eye:	n/a
47	chr2:153550624-153550674	PANC-1	pancreas:	n/a
48	chr2:153550624-153550674	SKMC	muscle:	n/a
49	chr2:153550624-153550674	MCF10A-Er-Src	breast:	n/a
50	chr2:153550624-153550674	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153549811..153552361-chr2:153572191..153576736,5	K562	blood:

No data

Variant related genes	Relation type
PRPF40A	TF binding region
PRPF40A	CpG island
ENSG00000196504	Chromatin interaction
ENSG00000177917	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10172024	0.94[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181485	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10200667	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036526	0.94[CEU][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1065266	0.94[CEU][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931229	0.94[CEU][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1128804	0.83[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11544718	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11899051	0.87[ASN][1000 genomes]
rs12477881	0.89[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12621561	0.88[ASN][1000 genomes]
rs12997814	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13005368	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010731	0.88[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13017428	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031469	0.94[CEU][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13419068	0.88[ASN][1000 genomes]
rs1370498	0.94[CEU][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1437678	0.94[CEU][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831548	0.94[CEU][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831740	0.88[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17328734	0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[ASN][1000 genomes]
rs17400645	0.90[ASN][1000 genomes]
rs1962313	0.90[ASN][1000 genomes]
rs1986743	0.87[ASN][1000 genomes]
rs1992146	0.94[CEU][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2118377	0.94[CEU][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2304559	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346534	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346539	0.88[ASN][1000 genomes]
rs2346540	0.88[ASN][1000 genomes]
rs2346541	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346542	0.94[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346543	0.90[ASN][1000 genomes]
rs2346549	0.90[ASN][1000 genomes]
rs2346550	0.83[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3171980	0.94[CEU][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34585982	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34668102	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3748937	0.90[ASN][1000 genomes]
rs3748938	0.87[ASN][1000 genomes]
rs3748939	0.94[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762503	0.88[ASN][1000 genomes]
rs3762506	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762507	0.94[CEU][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811566	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233660	0.90[ASN][1000 genomes]
rs4267470	0.90[ASN][1000 genomes]
rs4580346	0.84[ASN][1000 genomes]
rs4664121	0.88[ASN][1000 genomes]
rs4664122	0.94[CEU][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664601	0.88[ASN][1000 genomes]
rs4664602	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664604	0.94[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664605	0.90[ASN][1000 genomes]
rs4664606	0.89[ASN][1000 genomes]
rs4664607	0.94[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664609	0.90[ASN][1000 genomes]
rs4664610	0.88[ASN][1000 genomes]
rs55785027	0.87[EUR][1000 genomes]
rs56283545	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61049574	0.82[ASN][1000 genomes]
rs6434161	0.94[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434162	0.94[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713779	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6723574	0.86[ASN][1000 genomes]
rs6727279	0.87[ASN][1000 genomes]
rs6746079	0.88[ASN][1000 genomes]
rs6746321	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748160	0.90[ASN][1000 genomes]
rs715047	0.86[ASN][1000 genomes]
rs72871191	0.88[ASN][1000 genomes]
rs72872607	0.88[ASN][1000 genomes]
rs7556673	0.88[ASN][1000 genomes]
rs7558920	0.88[ASN][1000 genomes]
rs7559219	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560393	0.94[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570759	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576152	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7576847	0.81[ASN][1000 genomes]
rs7582253	0.88[ASN][1000 genomes]
rs7589899	0.82[ASN][1000 genomes]
rs7593347	0.93[CEU][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7599946	0.90[ASN][1000 genomes]
rs7605709	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608603	0.90[ASN][1000 genomes]
rs9288121	0.94[CEU][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9288125	0.94[CEU][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9288127	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9646744	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789505	0.88[ASN][1000 genomes]
rs9789521	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153508000-153550800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr2:153509200-153551200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:153518400-153551000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:153518800-153558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:153523000-153557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:153523400-153571800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:153525000-153557800	Weak transcription	Lung	lung
8	chr2:153525000-153571800	Weak transcription	Small Intestine	intestine
9	chr2:153532400-153550800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:153533200-153551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:153533200-153551600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:153533200-153558000	Weak transcription	Colonic Mucosa	Colon
13	chr2:153533400-153557800	Weak transcription	Fetal Stomach	stomach
14	chr2:153533400-153558600	Weak transcription	Aorta	Aorta
15	chr2:153533400-153571600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:153533800-153558000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:153533800-153572600	Weak transcription	Fetal Brain Male	brain
18	chr2:153536000-153572600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:153537200-153557200	Weak transcription	Thymus	Thymus
20	chr2:153537400-153565400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:153537600-153557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:153537600-153558400	Weak transcription	Fetal Brain Female	brain
23	chr2:153537600-153571800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:153537800-153550800	Weak transcription	Brain Substantia Nigra	brain
25	chr2:153537800-153557800	Weak transcription	Brain Germinal Matrix	brain
26	chr2:153539600-153557800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:153539600-153557800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:153539600-153557800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:153539600-153557800	Weak transcription	Esophagus	oesophagus
30	chr2:153539600-153557800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:153539600-153571800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:153539600-153572400	Weak transcription	Brain Angular Gyrus	brain
33	chr2:153539600-153572400	Weak transcription	Pancreas	Pancrea
34	chr2:153540000-153555800	Strong transcription	HepG2	liver
35	chr2:153540400-153552000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:153540600-153550800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:153541200-153556600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:153542000-153552600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:153542000-153557800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:153543400-153551400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:153543400-153557800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:153543600-153551200	Strong transcription	Dnd41	blood
43	chr2:153543800-153551000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:153544400-153568200	Weak transcription	Fetal Kidney	kidney
45	chr2:153544800-153553400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:153546800-153551200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:153547000-153551200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:153547200-153551400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:153547400-153550800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:153547400-153550800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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