Variant report

Variant	rs34468415
Chromosome Location	chr2:178125142-178125143
allele	A/G
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	POLR2A	chr2:178124931-178125480	Hela-S3	cervix:	n/a	n/a
2	EP300	chr2:178125142-178125285	K562	blood:	n/a	n/a
3	POLR2A	chr2:178124818-178125641	A549	lung:	n/a	n/a
4	POLR2A	chr2:178124910-178125599	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:178124920-178125532	K562	blood:	n/a	n/a
6	HEY1	chr2:178124892-178125416	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:178125138-178125451	K562	blood:	n/a	n/a
8	POLR2A	chr2:178124885-178125399	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:178124799-178125604	HepG2	liver:	n/a	n/a
10	MBD4	chr2:178124821-178125348	HepG2	liver:	n/a	n/a
11	GATA1	chr2:178124996-178125475	PBDE	blood:	n/a	chr2:178125226-178125242 chr2:178125231-178125238 chr2:178125224-178125245 chr2:178125231-178125238 chr2:178125231-178125238
12	POLR2A	chr2:178124989-178125202	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:178125000-178125157	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr2:178124889-178125418	GM12892	blood:	n/a	n/a
15	POLR2A	chr2:178124779-178131766	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:178124668-178125608	HepG2	liver:	n/a	n/a
17	MAZ	chr2:178125103-178125478	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:178124963-178125162	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr2:178125125-178125499	K562	blood:	n/a	n/a
20	POLR2A	chr2:178125058-178125315	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:178124876-178125508	GM12892	blood:	n/a	n/a
22	SMC3	chr2:178125002-178125169	Hela-S3	cervix:	n/a	n/a
23	WRNIP1	chr2:178124941-178125460	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:178124880-178125523	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr2:178124924-178125254	U87	brain:	n/a	n/a
26	POLR2A	chr2:178124809-178125548	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:178124856-178127292	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:178125003-178125378	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:178025635..178032947-chr2:178118593..178131370,24	K562	blood:
2	chr2:178090995..178099266-chr2:178122532..178131742,19	MCF-7	breast:
3	chr2:178076417..178080648-chr2:178122342..178126721,4	MCF-7	breast:
4	chr2:178123678..178126348-chr2:178183923..178185546,2	K562	blood:
5	chr1:17231522..17232185-chr2:178124999..178125849,2	Hela-S3	cervix:
6	chr2:178071941..178083670-chr2:178123489..178131742,39	MCF-7	breast:
7	chr2:178124493..178127517-chr2:178177644..178180256,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222043	TF binding region
MIR3128	TF binding region
ENSG00000225808	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000236501	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	0.83[EUR][1000 genomes]
rs13001694	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13005431	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13028464	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17524059	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17581525	0.91[EUR][1000 genomes]
rs17647588	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1806649	0.95[ASN][1000 genomes]
rs34551701	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35284526	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35440573	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36030784	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62173695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178107200-178126000	Weak transcription	Brain Germinal Matrix	brain
2	chr2:178113400-178126600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:178114600-178125800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:178114600-178126000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr2:178119400-178126000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:178119400-178127800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:178119800-178126200	Genic enhancers	Dnd41	blood
8	chr2:178120000-178126400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:178121200-178126000	Weak transcription	HSMM	muscle
10	chr2:178121800-178125200	Weak transcription	Esophagus	oesophagus
11	chr2:178121800-178125600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:178122000-178126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:178122400-178125200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:178122400-178125200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:178122400-178125200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:178122600-178125200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:178122600-178125600	Weak transcription	Colonic Mucosa	Colon
18	chr2:178122600-178126000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:178122600-178126200	Weak transcription	Placenta	Placenta
20	chr2:178122600-178128200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:178122800-178125200	Weak transcription	Fetal Stomach	stomach
22	chr2:178122800-178128000	Weak transcription	Gastric	stomach
23	chr2:178123200-178126000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:178123200-178126600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:178123200-178128000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:178123400-178125200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:178123400-178125200	Transcr. at gene 5' and 3'	HepG2	liver
28	chr2:178123400-178126000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:178123400-178127000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:178123600-178126000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:178123800-178125400	Enhancers	Spleen	Spleen
32	chr2:178123800-178126000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:178124000-178125200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:178124000-178125600	Weak transcription	Lung	lung
35	chr2:178124000-178126200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:178124000-178126800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:178124200-178126000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:178124200-178126000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:178124200-178126000	Enhancers	Brain Hippocampus Middle	brain
40	chr2:178124200-178126200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:178124400-178125600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:178124400-178126200	Enhancers	Left Ventricle	heart
43	chr2:178124600-178125400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:178124600-178125400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:178124600-178126400	Enhancers	Small Intestine	intestine
46	chr2:178124800-178125200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:178124800-178125200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:178124800-178125200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:178124800-178125200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr2:178124800-178125200	Transcr. at gene 5' and 3'	A549	lung

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