Variant report

Variant	rs17046604
Chromosome Location	chr2:114737124-114737125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:114736940-114737639	HepG2	liver:	n/a	n/a
2	CTCF	chr2:114737080-114737673	K562	blood:	n/a	n/a
3	IRF4	chr2:114736953-114737702	GM12878	blood:	n/a	n/a
4	CTCF	chr2:114737120-114737270	HEK293	kidney:	n/a	n/a
5	YY1	chr2:114737037-114737675	GM12878	blood:	n/a	n/a
6	CTCF	chr2:114737120-114737270	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr2:114736937-114737829	HCT-116	colon:	n/a	n/a
8	BCLAF1	chr2:114736996-114737612	GM12878	blood:	n/a	n/a
9	CTCF	chr2:114737120-114737270	BJ	skin:	n/a	n/a
10	CTCF	chr2:114737040-114737190	HPF	lung:	n/a	n/a
11	POLR2A	chr2:114737072-114737663	A549	lung:	n/a	n/a
12	MYBL2	chr2:114734478-114738477	HepG2	liver:	n/a	n/a
13	RXRA	chr2:114736910-114737656	GM12878	blood:	n/a	n/a
14	CTCF	chr2:114737120-114737270	WERI-Rb-1	eye:	n/a	n/a
15	YY1	chr2:114737011-114737688	GM12878	blood:	n/a	n/a
16	CTCF	chr2:114737040-114737190	HRE	kidney:	n/a	n/a
17	BCL11A	chr2:114737044-114737607	GM12878	blood:	n/a	n/a
18	CTCF	chr2:114737029-114737709	K562	blood:	n/a	n/a
19	CTCF	chr2:114737120-114737270	GM12874	blood:	n/a	n/a
20	CTCF	chr2:114737040-114737190	HA-sp	spinal cord:	n/a	n/a
21	EGR1	chr2:114737070-114737621	K562	blood:	n/a	chr2:114737302-114737316
22	CTCF	chr2:114737060-114737643	A549	lung:	n/a	n/a
23	POLR2A	chr2:114736993-114737656	GM12892	blood:	n/a	n/a
24	FOXM1	chr2:114736846-114737734	GM12878	blood:	n/a	n/a
25	CTCF	chr2:114737120-114737410	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr2:114737120-114737270	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr2:114737040-114737190	HCPEpiC	choroid plexus:	n/a	n/a
28	ZBTB33	chr2:114736948-114737726	K562	blood:	n/a	n/a
29	FOXA2	chr2:114736928-114737686	A549	lung:	n/a	n/a
30	POLR2A	chr2:114734270-114737182	HepG2	liver:	n/a	n/a
31	CREB1	chr2:114734601-114737261	HepG2	liver:	n/a	n/a
32	HEY1	chr2:114734625-114737653	HepG2	liver:	n/a	n/a
33	STAT5A	chr2:114736921-114737930	GM12878	blood:	n/a	chr2:114737601-114737612
34	TCF12	chr2:114737060-114737644	GM12878	blood:	n/a	n/a
35	CTCF	chr2:114737061-114737656	GM12892	blood:	n/a	n/a
36	CTCF	chr2:114737060-114737210	GM12873	blood:	n/a	n/a
37	CTCF	chr2:114736999-114737689	GM12878	blood:	n/a	n/a
38	HEY1	chr2:114736958-114737683	HepG2	liver:	n/a	n/a
39	BCL3	chr2:114737038-114737596	GM12878	blood:	n/a	n/a
40	CTCF	chr2:114737080-114737230	HAc	cerebellar:	n/a	n/a
41	PAX5	chr2:114737039-114737602	GM12892	blood:	n/a	n/a
42	CTCF	chr2:114737060-114737210	HCFaa	heart:	n/a	n/a
43	CTCF	chr2:114737109-114737620	Spleen_OC	spleen:	n/a	n/a
44	ZBTB33	chr2:114736934-114737794	K562	blood:	n/a	n/a
45	TCF3	chr2:114737015-114737632	GM12878	blood:	n/a	n/a
46	CTCF	chr2:114737042-114737683	GM19238	blood:	n/a	n/a
47	SP1	chr2:114736979-114737727	GM12878	blood:	n/a	n/a
48	CTCF	chr2:114737060-114737210	GM12874	blood:	n/a	n/a
49	YY1	chr2:114737051-114737586	GM12891	blood:	n/a	n/a
50	CTCF	chr2:114736998-114737710	K562	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR3-1	chr2:114735195-114737211	NONHSAT073855
2	lnc-SLC35F5-19	chr2:114736482-114737401	NONHSAT073858

No data

Variant related genes	Relation type
ENSG00000243179	TF binding region
ENSG00000234199	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10182551	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182655	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195346	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10202743	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901777	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901908	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463475	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12472051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13396863	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13398262	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409114	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13409146	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421586	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3866272	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3916120	1.00[ASN][1000 genomes]
rs56351059	0.95[ASN][1000 genomes]
rs62617784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749304	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71416578	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
2	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:114718800-114743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:114732400-114737400	Weak transcription	Lung	lung
5	chr2:114733400-114737400	Weak transcription	GM12878-XiMat	blood
6	chr2:114733400-114741200	Weak transcription	Liver	Liver
7	chr2:114733400-114743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:114733800-114741600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:114734000-114737200	Enhancers	HMEC	breast
10	chr2:114734000-114737800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:114734000-114738000	Enhancers	Pancreas	Pancrea
12	chr2:114734000-114746000	Weak transcription	Aorta	Aorta
13	chr2:114734000-114751800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:114734200-114737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:114734400-114749800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:114734600-114738200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:114734800-114741800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:114734800-114742400	Weak transcription	Primary B cells from cord blood	blood
19	chr2:114734800-114744000	Weak transcription	Primary T cells from cord blood	blood
20	chr2:114735000-114737400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:114735200-114737200	Weak transcription	Thymus	Thymus
22	chr2:114735200-114737400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:114736000-114737200	Flanking Active TSS	HepG2	liver
24	chr2:114736000-114737600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:114736000-114737600	Weak transcription	Osteobl	bone
26	chr2:114736000-114737800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:114736000-114738200	Weak transcription	NHDF-Ad	bronchial
28	chr2:114736000-114742600	Weak transcription	NHLF	lung
29	chr2:114736200-114737600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:114736200-114738600	Weak transcription	HUVEC	blood vessel
31	chr2:114736200-114740200	Weak transcription	HSMM	muscle
32	chr2:114736200-114741200	Weak transcription	Gastric	stomach
33	chr2:114736200-114761000	Weak transcription	HSMMtube	muscle
34	chr2:114736400-114737800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:114736400-114737800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:114736600-114737400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:114736600-114737400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:114736600-114737800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:114736600-114738800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
40	chr2:114736600-114738800	Weak transcription	NH-A	brain
41	chr2:114736800-114737200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:114736800-114737800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:114736800-114737800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr2:114736800-114737800	Weak transcription	NHEK	skin
45	chr2:114736800-114738000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:114736800-114738000	ZNF genes & repeats	A549	lung
47	chr2:114737000-114737600	ZNF genes & repeats	Spleen	Spleen
48	chr2:114737000-114738000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:114737000-114738000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:114737000-114738000	ZNF genes & repeats	Fetal Intestine Small	intestine

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