Variant report

Variant	rs34551701
Chromosome Location	chr2:178127040-178127041
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:178126718-178127346	PANC-1	pancreas:	n/a	n/a
2	CTCF	chr2:178126920-178127070	HMEC	breast:	n/a	n/a
3	EP300	chr2:178126916-178127245	GM12878	blood:	n/a	n/a
4	GATA1	chr2:178126027-178127306	PBDE	blood:	n/a	chr2:178127037-178127054
5	CTCF	chr2:178126960-178127110	AG10803	skin:	n/a	n/a
6	CHD1	chr2:178125890-178131288	IMR90	lung:	n/a	chr2:178129487-178129497 chr2:178128831-178128841
7	POLR2A	chr2:178126862-178127128	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr2:178126723-178127199	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr2:178126749-178127293	PANC-1	pancreas:	n/a	n/a
10	HEY1	chr2:178126642-178127193	HepG2	liver:	n/a	n/a
11	JUN	chr2:178126918-178127229	K562	blood:	n/a	n/a
12	POLR2A	chr2:178125891-178130864	HepG2	liver:	n/a	n/a
13	CTCF	chr2:178126980-178127130	AG04449	skin:	n/a	n/a
14	JUN	chr2:178125945-178131847	K562	blood:	n/a	n/a
15	TAL1	chr2:178126861-178127293	K562	blood:	n/a	chr2:178127036-178127054
16	CUX1	chr2:178126931-178127309	K562	blood:	n/a	n/a
17	ARID3A	chr2:178126853-178127231	K562	blood:	n/a	n/a
18	POLR2A	chr2:178125918-178127170	A549	lung:	n/a	n/a
19	CHD1	chr2:178126508-178127087	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:178125902-178127592	HepG2	liver:	n/a	n/a
21	CCNT2	chr2:178126805-178127113	K562	blood:	n/a	chr2:178127034-178127054
22	POLR2A	chr2:178126899-178127428	K562	blood:	n/a	n/a
23	POLR2A	chr2:178125851-178127229	HepG2	liver:	n/a	n/a
24	EP300	chr2:178126939-178127310	K562	blood:	n/a	n/a
25	POLR2A	chr2:178124779-178131766	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr2:178125902-178130319	K562	blood:	n/a	n/a
27	POLR2A	chr2:178126947-178127229	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:178126674-178127208	U87	brain:	n/a	n/a
29	POLR2A	chr2:178125930-178127535	GM12878	blood:	n/a	n/a
30	CTCF	chr2:178126980-178127130	HCPEpiC	choroid plexus:	n/a	n/a
31	POLR2A	chr2:178126796-178130335	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr2:178125874-178130540	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr2:178127011-178127186	Hela-S3	cervix:	n/a	n/a
34	IRF1	chr2:178126843-178128955	K562	blood:	n/a	chr2:178127300-178127314 chr2:178128018-178128032 chr2:178128096-178128112 chr2:178127901-178127915 chr2:178127905-178127915 chr2:178128776-178128785 chr2:178127904-178127916
35	MBD4	chr2:178126223-178127327	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:178125749-178127225	GM12878	blood:	n/a	n/a
37	POLR2A	chr2:178125867-178130678	IMR90	lung:	n/a	n/a
38	TBL1XR1	chr2:178126908-178128990	K562	blood:	n/a	n/a
39	POLR2A	chr2:178124856-178127292	GM12878	blood:	n/a	n/a
40	RCOR1	chr2:178126922-178127234	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:178125970..178131401-chr2:178255081..178263132,15	K562	blood:
2	chr2:178025635..178032808-chr2:178126889..178131438,9	K562	blood:
3	chr2:178025635..178032947-chr2:178118593..178131370,24	K562	blood:
4	chr2:178090995..178099266-chr2:178122532..178131742,19	MCF-7	breast:
5	chr2:178071941..178083670-chr2:178123489..178131742,39	MCF-7	breast:
6	chr2:178059437..178061662-chr2:178125593..178129550,4	K562	blood:
7	chr2:178125506..178127319-chr2:178199842..178201994,2	K562	blood:
8	chr2:176031084..176033684-chr2:178126996..178129674,2	MCF-7	breast:
9	chr2:178074677..178081196-chr2:178126992..178134025,23	MCF-7	breast:
10	chr2:178124493..178127517-chr2:178177644..178180256,4	K562	blood:

Variant related genes	Relation type
ENSG00000222043	TF binding region
ENSG00000263721	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000215973	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000115966	Chromatin interaction
ENSG00000018510	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000229750	Chromatin interaction
ENSG00000225808	Chromatin interaction
ENSG00000201102	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000170144	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10183914	0.82[EUR][1000 genomes]
rs13001694	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13005431	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13028464	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17524059	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17581525	0.90[EUR][1000 genomes]
rs17647588	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1806649	0.95[ASN][1000 genomes]
rs34468415	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35284526	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35440573	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36030784	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62173695	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178119400-178127800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:178122600-178128200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:178122800-178128000	Weak transcription	Gastric	stomach
4	chr2:178123200-178128000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:178124800-178127600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:178124800-178130200	Active TSS	Ovary	ovary
7	chr2:178124800-178130600	Active TSS	NHLF	lung
8	chr2:178125000-178127200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr2:178125000-178127400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:178125000-178127600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:178125000-178130200	Active TSS	Aorta	Aorta
12	chr2:178125200-178128200	Active TSS	Right Atrium	heart
13	chr2:178125200-178130400	Active TSS	Esophagus	oesophagus
14	chr2:178125400-178128200	Weak transcription	Spleen	Spleen
15	chr2:178125400-178130000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:178125400-178130400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:178125400-178130400	Active TSS	Rectal Smooth Muscle	rectum
18	chr2:178125400-178130600	Active TSS	HSMMtube	muscle
19	chr2:178125600-178127600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr2:178125600-178127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:178125600-178130400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr2:178125600-178130600	Active TSS	A549	lung
23	chr2:178125800-178127400	Flanking Active TSS	HUVEC	blood vessel
24	chr2:178125800-178128600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:178125800-178130000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:178125800-178130400	Active TSS	Fetal Kidney	kidney
27	chr2:178126000-178127200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:178126000-178127200	Flanking Active TSS	Liver	Liver
29	chr2:178126000-178127200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr2:178126000-178127200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:178126000-178127400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr2:178126000-178127400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr2:178126000-178127400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:178126000-178127600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:178126000-178127800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:178126000-178127800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr2:178126000-178128000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr2:178126000-178130000	Active TSS	HSMM	muscle
39	chr2:178126000-178130400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:178126000-178130400	Active TSS	Colonic Mucosa	Colon
41	chr2:178126000-178130600	Active TSS	Stomach Smooth Muscle	stomach
42	chr2:178126200-178127200	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr2:178126200-178127200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr2:178126200-178127200	Transcr. at gene 5' and 3'	K562	blood
45	chr2:178126200-178127200	Flanking Active TSS	NH-A	brain
46	chr2:178126200-178127400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:178126400-178127200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr2:178126400-178127400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:178126400-178127600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:178126400-178127800	Weak transcription	Left Ventricle	heart

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