Variant report

Variant	rs13017003
Chromosome Location	chr2:178192838-178192839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:178192824-178193198	K562	blood:	n/a	n/a
2	MAZ	chr2:178192801-178193099	K562	blood:	n/a	n/a
3	JUN	chr2:178192754-178193087	HUVEC	blood vessel:	n/a	n/a
4	ATF1	chr2:178192740-178193105	K562	blood:	n/a	n/a
5	GATA1	chr2:178192548-178193280	K562	blood:	n/a	n/a
6	ARID3A	chr2:178192799-178193024	K562	blood:	n/a	n/a
7	TBL1XR1	chr2:178192786-178193098	K562	blood:	n/a	n/a
8	CUX1	chr2:178192789-178193140	K562	blood:	n/a	n/a
9	EP300	chr2:178192798-178193064	Hela-S3	cervix:	n/a	n/a
10	JUN	chr2:178192729-178193102	Hela-S3	cervix:	n/a	n/a
11	JUND	chr2:178192770-178193060	HepG2	liver:	n/a	chr2:178192918-178192929
12	JUND	chr2:178192763-178193062	K562	blood:	n/a	chr2:178192918-178192929
13	TEAD4	chr2:178192708-178193142	K562	blood:	n/a	n/a
14	TEAD4	chr2:178192566-178193311	K562	blood:	n/a	n/a
15	FOS	chr2:178192741-178193067	HUVEC	blood vessel:	n/a	chr2:178192918-178192929
16	GATA1	chr2:178192558-178193793	PBDE	blood:	n/a	n/a
17	GATA1	chr2:178192807-178193034	PBDEFetal	blood:	n/a	n/a
18	EP300	chr2:178192689-178193145	K562	blood:	n/a	n/a
19	CEBPB	chr2:178192729-178193039	Hela-S3	cervix:	n/a	n/a
20	RCOR1	chr2:178192742-178193092	Hela-S3	cervix:	n/a	n/a
21	GATA2	chr2:178192675-178193119	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr2:178192745-178193096	Hela-S3	cervix:	n/a	chr2:178192918-178192929
23	TAL1	chr2:178192744-178193118	K562	blood:	n/a	n/a
24	RCOR1	chr2:178192754-178193189	K562	blood:	n/a	n/a
25	RFX5	chr2:178192707-178192977	Hela-S3	cervix:	n/a	n/a
26	JUND	chr2:178192682-178193142	Hela-S3	cervix:	n/a	chr2:178192918-178192929
27	USF2	chr2:178192782-178193052	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr2:178192756-178193064	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178127296..178131076-chr2:178188144..178194179,6	MCF-7	breast:
2	chr2:178192691..178195297-chr2:178200068..178202919,2	K562	blood:
3	chr2:178129430..178133287-chr2:178190685..178195050,5	K562	blood:
4	chr2:178092578..178094284-chr2:178190511..178193072,2	K562	blood:
5	chr2:178118014..178120377-chr2:178191439..178193485,2	K562	blood:
6	chr2:178187336..178189064-chr2:178191251..178194155,2	K562	blood:
7	chr2:178135429..178137464-chr2:178191123..178193752,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213963	TF binding region
ENSG00000222043	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000225808	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10166244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173008	0.91[EUR][1000 genomes]
rs10173159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10173172	0.91[EUR][1000 genomes]
rs10176950	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179735	0.91[EUR][1000 genomes]
rs10179975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182714	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10184488	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10190306	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10196753	0.90[EUR][1000 genomes]
rs10196915	0.90[EUR][1000 genomes]
rs10207932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497506	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497509	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754987	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10754988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10803911	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930782	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10930783	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930785	0.91[EUR][1000 genomes]
rs10930786	0.91[EUR][1000 genomes]
rs10930788	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930793	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11674864	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11681133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889478	0.90[EUR][1000 genomes]
rs12478545	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12623239	1.00[JPT][hapmap]
rs12693118	0.91[EUR][1000 genomes]
rs12693119	0.88[EUR][1000 genomes]
rs12987686	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992747	0.90[EUR][1000 genomes]
rs13001890	1.00[JPT][hapmap]
rs13002088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13011915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392350	1.00[JPT][hapmap]
rs13410559	1.00[JPT][hapmap]
rs1374438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453374	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453375	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453376	0.88[EUR][1000 genomes]
rs1530965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865143	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865148	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865189	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865191	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865322	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16865324	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1867905	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1869357	0.90[EUR][1000 genomes]
rs1869358	0.89[EUR][1000 genomes]
rs1901823	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2167902	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2218575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2272529	1.00[JPT][hapmap]
rs2364733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2364847	0.88[EUR][1000 genomes]
rs2364848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364851	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2364852	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2886194	1.00[JPT][hapmap]
rs3754989	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3813260	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4130304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4402804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4585065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4893955	1.00[CHB][hapmap]
rs6414095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6433661	0.87[EUR][1000 genomes]
rs6433662	0.90[EUR][1000 genomes]
rs6433666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6710109	1.00[JPT][hapmap]
rs6719278	0.90[EUR][1000 genomes]
rs6720934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6724177	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6725331	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6731409	0.90[EUR][1000 genomes]
rs6732113	0.90[EUR][1000 genomes]
rs6732250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6732256	0.90[EUR][1000 genomes]
rs6735504	1.00[CHB][hapmap]
rs6740092	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6744247	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6746113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs73039071	0.81[ASN][1000 genomes]
rs73039075	0.81[ASN][1000 genomes]
rs7563082	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7566319	0.81[ASN][1000 genomes]
rs7570297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7575328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578962	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7585952	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7588049	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7588444	0.90[EUR][1000 genomes]
rs7594073	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7601132	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7602451	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7604668	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935426	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs935949	1.00[CHB][hapmap];1.00[JPT][hapmap]

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178160800-178196200	Weak transcription	Ovary	ovary
2	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:178179200-178196600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:178179800-178196800	Weak transcription	Fetal Brain Female	brain
5	chr2:178179800-178196800	Weak transcription	Osteobl	bone
6	chr2:178180400-178196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:178180800-178196400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:178182400-178196800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:178182800-178196600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:178184000-178196400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:178184400-178196600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:178184800-178196800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:178187000-178194000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:178187200-178193000	Enhancers	Stomach Mucosa	stomach
15	chr2:178187400-178196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:178187400-178196800	Weak transcription	Esophagus	oesophagus
17	chr2:178187600-178193200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:178187600-178195000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:178187600-178196400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:178187600-178196800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:178187800-178196600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:178187800-178196600	Weak transcription	Brain Angular Gyrus	brain
24	chr2:178187800-178196600	Weak transcription	Brain Anterior Caudate	brain
25	chr2:178187800-178196600	Weak transcription	Brain Substantia Nigra	brain
26	chr2:178187800-178196800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
28	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:178188000-178193400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:178188000-178194400	Weak transcription	Gastric	stomach
31	chr2:178188000-178196400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:178188000-178196400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:178188000-178196600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:178188000-178196600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:178188000-178196600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:178188000-178196800	Weak transcription	Primary B cells from cord blood	blood
37	chr2:178188000-178196800	Weak transcription	Adipose Nuclei	Adipose
38	chr2:178188000-178196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:178188000-178196800	Weak transcription	Fetal Stomach	stomach
40	chr2:178188000-178196800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:178188200-178196400	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:178188200-178196600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:178190400-178193200	Enhancers	NHEK	skin
44	chr2:178190400-178194000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:178190600-178202600	Weak transcription	NHDF-Ad	bronchial
46	chr2:178191000-178193000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:178191000-178193000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:178191000-178196400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:178191000-178196600	Weak transcription	Fetal Heart	heart
50	chr2:178191000-178196600	Weak transcription	HSMM	muscle

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