Variant report

Variant	rs2275245
Chromosome Location	chr1:150460348-150460349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:150459491-150460350	ECC-1	luminal epithelium:	n/a	n/a
2	MYC	chr1:150459506-150460510	NB4	blood:	n/a	n/a
3	POLR2A	chr1:150459388-150460621	K562	blood:	n/a	n/a
4	PML	chr1:150459398-150460498	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:150459640-150460458	GM12891	blood:	n/a	n/a
6	ELK1	chr1:150460308-150460495	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:150459472-150460601	GM12891	blood:	n/a	n/a
8	POLR2A	chr1:150459476-150460513	GM12891	blood:	n/a	n/a
9	JUN	chr1:150459420-150460947	K562	blood:	n/a	n/a
10	POLR2A	chr1:150459530-150460366	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:150459521-150460475	GM19193	blood:	n/a	n/a
12	MYC	chr1:150459539-150460381	K562	blood:	n/a	n/a
13	POLR2A	chr1:150459431-150460598	K562	blood:	n/a	n/a
14	POLR2A	chr1:150459490-150460517	K562	blood:	n/a	n/a
15	SIN3AK20	chr1:150459396-150460427	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:150459501-150460470	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:150459440-150460679	GM12878	blood:	n/a	n/a
18	PML	chr1:150459359-150460496	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:150459420-150460589	HUVEC	blood vessel:	n/a	n/a
20	HDAC2	chr1:150459448-150460436	MCF-7	breast:	n/a	n/a
21	SIX5	chr1:150459333-150460412	A549	lung:	n/a	n/a
22	POLR2A	chr1:150459531-150460404	MCF-7	breast:	n/a	n/a
23	ELF1	chr1:150459346-150460750	MCF-7	breast:	n/a	chr1:150460457-150460470
24	MAX	chr1:150459429-150460357	A549	lung:	n/a	n/a
25	GABPA	chr1:150459383-150460669	MCF-7	breast:	n/a	n/a
26	HCFC1	chr1:150459398-150461008	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:150459398-150460469	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr1:150459494-150460471	K562	blood:	n/a	n/a
29	NFIC	chr1:150459353-150460391	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:150460322-150460382	MCF-7	breast:	n/a	n/a
31	POLR2A	chr1:150459470-150460526	Raji	blood:	n/a	n/a
32	GATA1	chr1:150459561-150460566	PBDE	blood:	n/a	chr1:150459571-150459581
33	MAX	chr1:150459404-150460666	MCF-7	breast:	n/a	n/a
34	RFX5	chr1:150459515-150460418	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:150459443-150460933	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr1:150460259-150460586	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:150459484-150460665	MCF-7	breast:	n/a	n/a
38	POLR2A	chr1:150459491-150460581	HUVEC	blood vessel:	n/a	n/a
39	ELF1	chr1:150460315-150460613	K562	blood:	n/a	chr1:150460457-150460470
40	MXI1	chr1:150458852-150460807	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr1:150459399-150460697	GM12892	blood:	n/a	n/a
42	MXI1	chr1:150459410-150460658	IMR90	lung:	n/a	n/a
43	GABPA	chr1:150459248-150460635	MCF-7	breast:	n/a	n/a
44	ELF1	chr1:150459458-150460719	MCF-7	breast:	n/a	chr1:150460457-150460470
45	TCF12	chr1:150459239-150460356	A549	lung:	n/a	n/a
46	GTF2F1	chr1:150460332-150460461	K562	blood:	n/a	n/a
47	GATA3	chr1:150459418-150460453	MCF-7	breast:	n/a	chr1:150459571-150459581
48	POLR2A	chr1:150459533-150460727	GM12892	blood:	n/a	n/a
49	MTA3	chr1:150459307-150460659	GM12878	blood:	n/a	n/a
50	ELK1	chr1:150459490-150460458	Hela-S3	cervix:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150458483..150461483-chr1:150486453..150489390,6	MCF-7	breast:
2	chr1:150334215..150336170-chr1:150458883..150461226,2	K562	blood:
3	chr1:150458661..150461236-chr1:150531725..150536785,4	MCF-7	breast:
4	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
5	chr1:150459417..150461989-chr1:150549858..150552620,3	MCF-7	breast:
6	chr1:150457915..150461156-chr1:150532058..150534752,4	MCF-7	breast:
7	chr1:150459018..150460856-chr1:150519254..150522007,2	MCF-7	breast:
8	chr1:150458615..150462130-chr1:150550221..150553114,4	K562	blood:
9	chr1:150458113..150460742-chr1:150599904..150603804,4	MCF-7	breast:
10	chr1:150458065..150461622-chr1:150486691..150490573,5	MCF-7	breast:
11	chr1:150459991..150463132-chr1:150521583..150524853,3	K562	blood:
12	chr1:150458118..150461224-chr1:150521416..150523335,4	K562	blood:
13	chr1:150459936..150462426-chr1:150537781..150540425,2	K562	blood:
14	chr1:150459471..150461027-chr1:150601141..150603564,2	K562	blood:
15	chr1:150457583..150461907-chr1:150523895..150528793,6	MCF-7	breast:
16	chr1:150458453..150462100-chr1:150463666..150466292,4	K562	blood:
17	chr1:150458028..150460943-chr1:150462500..150464059,2	K562	blood:
18	chr1:150458473..150461317-chr1:150523404..150525508,2	MCF-7	breast:
19	chr1:150458426..150460384-chr1:150464250..150466250,2	K562	blood:
20	chr1:150459274..150461316-chr1:150480408..150482138,3	K562	blood:

No data

Variant related genes	Relation type
TARS2	TF binding region
ENSG00000143384	Chromatin interaction
ENSG00000143369	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000203804	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11810419	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12116970	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12129037	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12718416	0.96[ASN][1000 genomes]
rs12729719	0.96[ASN][1000 genomes]
rs13057	0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16830437	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16835699	0.85[ASN][1000 genomes]
rs16835708	0.85[ASN][1000 genomes]
rs16835782	0.88[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16835791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16835911	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836130	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836139	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836442	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836576	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16836594	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16836601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16836786	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16836940	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16836943	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1694386	0.84[JPT][hapmap]
rs17599629	0.83[JPT][hapmap]
rs2015966	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2275779	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3737319	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3738322	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3795702	0.86[CHB][hapmap]
rs3806389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3850843	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4926420	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4926421	1.00[JPT][hapmap]
rs4926430	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4970925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4970927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4970946	0.96[ASN][1000 genomes]
rs4970947	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4971044	0.88[CHB][hapmap]
rs522068	0.87[ASN][1000 genomes]
rs56882505	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56909494	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57163995	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57272513	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57361164	0.85[ASN][1000 genomes]
rs57971032	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58373639	0.84[AMR][1000 genomes]
rs58419446	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58516261	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59367061	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59378360	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59639798	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59662772	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60459288	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60531845	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60730811	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60758881	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6663989	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs6679726	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6680391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6700009	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6700607	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71622690	0.89[ASN][1000 genomes]
rs73011384	0.85[ASN][1000 genomes]
rs73011400	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73013119	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73013129	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015063	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015078	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015081	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015095	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015096	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73017006	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73017073	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73017086	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73017092	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73017102	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019020	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019027	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019028	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73019054	0.84[AFR][1000 genomes]
rs7543314	0.82[AMR][1000 genomes]
rs871527	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs953127	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150459200-150460400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:150459200-150460400	Active TSS	Right Atrium	heart
3	chr1:150459200-150460600	Active TSS	Aorta	Aorta
4	chr1:150459200-150460600	Active TSS	GM12878-XiMat	blood
5	chr1:150459200-150460800	Active TSS	Fetal Brain Female	brain
6	chr1:150459400-150460400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:150459400-150460400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:150459400-150460400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:150459400-150460400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:150459400-150460400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:150459400-150460400	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr1:150459400-150460400	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr1:150459400-150460400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:150459400-150460400	Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:150459400-150460400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:150459400-150460400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:150459400-150460400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:150459400-150460400	Active TSS	Brain Cingulate Gyrus	brain
19	chr1:150459400-150460400	Active TSS	Brain Germinal Matrix	brain
20	chr1:150459400-150460400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:150459400-150460400	Active TSS	Colon Smooth Muscle	Colon
22	chr1:150459400-150460400	ZNF genes & repeats	Fetal Brain Male	brain
23	chr1:150459400-150460400	Active TSS	Fetal Heart	heart
24	chr1:150459400-150460400	Active TSS	Fetal Intestine Large	intestine
25	chr1:150459400-150460400	Active TSS	Fetal Intestine Small	intestine
26	chr1:150459400-150460400	Active TSS	Fetal Kidney	kidney
27	chr1:150459400-150460400	Active TSS	Lung	lung
28	chr1:150459400-150460400	Active TSS	Ovary	ovary
29	chr1:150459400-150460400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:150459400-150460400	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:150459400-150460400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr1:150459400-150460400	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr1:150459400-150460400	Active TSS	Hela-S3	cervix
34	chr1:150459400-150460400	Active TSS	HSMM	muscle
35	chr1:150459400-150460400	Active TSS	HSMMtube	muscle
36	chr1:150459400-150460400	Active TSS	NH-A	brain
37	chr1:150459400-150460400	Active TSS	NHEK	skin
38	chr1:150459400-150460400	Active TSS	NHLF	lung
39	chr1:150459400-150460600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:150459400-150460600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:150459400-150460600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:150459400-150460600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:150459400-150460600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:150459400-150460600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:150459400-150460600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:150459400-150460600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:150459400-150460600	Active TSS	Colonic Mucosa	Colon
48	chr1:150459400-150460600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr1:150459400-150460600	Active TSS	Fetal Muscle Trunk	muscle
50	chr1:150459400-150460600	Active TSS	Placenta Amnion	Placenta Amnion

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