Variant report

Variant	rs4667376
Chromosome Location	chr2:151024024-151024025
allele	A/G
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	JUN	chr2:151022479-151024829	K562	blood:	n/a	chr2:151024331-151024340 chr2:151024330-151024339 chr2:151024331-151024339 chr2:151024332-151024339
2	MAX	chr2:151023971-151024727	A549	lung:	n/a	chr2:151024330-151024339
3	GATA1	chr2:151024013-151024592	PBDE	blood:	n/a	chr2:151024349-151024356 chr2:151024332-151024341 chr2:151024347-151024359 chr2:151024348-151024358 chr2:151024349-151024356 chr2:151024349-151024356
4	GATA3	chr2:151023904-151024834	SK-N-SH	brain:	n/a	chr2:151024348-151024356 chr2:151024349-151024356 chr2:151024332-151024341 chr2:151024347-151024359 chr2:151024348-151024358 chr2:151024349-151024356 chr2:151024349-151024356
5	JUND	chr2:151024001-151024873	K562	blood:	n/a	chr2:151024331-151024340 chr2:151024330-151024339 chr2:151024329-151024340 chr2:151024331-151024339 chr2:151024332-151024339
6	GATA3	chr2:151023852-151025664	MCF-7	breast:	n/a	chr2:151024348-151024356 chr2:151024349-151024356 chr2:151024332-151024341 chr2:151025470-151025479 chr2:151024347-151024359 chr2:151024348-151024358 chr2:151024349-151024356 chr2:151024349-151024356
7	SIN3AK20	chr2:151023968-151024818	MCF-7	breast:	n/a	n/a
8	FOSL2	chr2:151023918-151024963	A549	lung:	n/a	chr2:151024331-151024340 chr2:151024330-151024339 chr2:151024331-151024339 chr2:151024332-151024339
9	REST	chr2:151023978-151024750	A549	lung:	n/a	n/a
10	TEAD4	chr2:151024020-151024733	SK-N-SH	brain:	n/a	n/a
11	JUND	chr2:151023929-151025900	SK-N-SH	brain:	n/a	chr2:151025471-151025480 chr2:151025472-151025481 chr2:151025472-151025480 chr2:151025473-151025480 chr2:151024331-151024340 chr2:151024330-151024339 chr2:151025470-151025481 chr2:151024329-151024340 chr2:151024331-151024339 chr2:151025470-151025482 chr2:151024332-151024339
12	EP300	chr2:151023877-151024924	A549	lung:	n/a	chr2:151024330-151024339 chr2:151024331-151024340
13	TCF12	chr2:151023945-151024705	SK-N-SH	brain:	n/a	n/a
14	EP300	chr2:151024008-151024848	A549	lung:	n/a	chr2:151024330-151024339 chr2:151024331-151024340
15	FOXM1	chr2:151023991-151024880	MCF-7	breast:	n/a	n/a
16	PBX3	chr2:151024011-151024715	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr2:151023978-151025059	A549	lung:	n/a	n/a
18	MAX	chr2:151023957-151024765	A549	lung:	n/a	chr2:151024330-151024339
19	SP1	chr2:151023957-151024790	A549	lung:	n/a	n/a
20	JUND	chr2:151024014-151024674	SK-N-SH	brain:	n/a	chr2:151024331-151024340 chr2:151024330-151024339 chr2:151024329-151024340 chr2:151024331-151024339 chr2:151024332-151024339
21	TCF12	chr2:151023920-151024753	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:151018984..151021461-chr2:151021617..151024029,2	K562	blood:
2	chr2:151020603..151025476-chr2:151341674..151344465,7	MCF-7	breast:
3	chr2:151022613..151024999-chr2:151332492..151334061,2	MCF-7	breast:
4	chr2:151022947..151025702-chr2:151341739..151344961,4	MCF-7	breast:
5	chr2:150848914..150851850-chr2:151022945..151025102,2	MCF-7	breast:
6	chr2:151015440..151017637-chr2:151020964..151024352,3	MCF-7	breast:
7	chr2:150988564..150990849-chr2:151022615..151025266,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230645	TF binding region
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10178850	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10180319	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10195216	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1157219	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11685263	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11687975	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11693901	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12618290	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13405415	0.98[ASN][1000 genomes]
rs1374159	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2376607	0.95[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28871317	0.98[ASN][1000 genomes]
rs4417736	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4567956	0.98[ASN][1000 genomes]
rs4667375	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4667377	0.98[ASN][1000 genomes]
rs4667379	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708312	0.98[ASN][1000 genomes]
rs6719194	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6721152	0.98[ASN][1000 genomes]
rs6727767	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6727863	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6750791	0.98[ASN][1000 genomes]
rs7563665	0.98[ASN][1000 genomes]
rs7601392	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9287808	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs954077	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv583294	chr2:151022044-151037893	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151021800-151026200	Enhancers	NH-A	brain
2	chr2:151021800-151026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:151022200-151026000	Enhancers	HMEC	breast
4	chr2:151022200-151026400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:151022200-151026400	Enhancers	Osteobl	bone
6	chr2:151022600-151024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:151022600-151025400	Enhancers	HUVEC	blood vessel
8	chr2:151022600-151025400	Enhancers	NHEK	skin
9	chr2:151022600-151025800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:151022600-151026400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:151023000-151024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:151023000-151024200	Weak transcription	Stomach Mucosa	stomach
13	chr2:151023200-151024200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:151023200-151024200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:151023200-151024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:151023200-151024200	Weak transcription	Esophagus	oesophagus
17	chr2:151023200-151024200	Weak transcription	HSMM	muscle
18	chr2:151023200-151024200	Weak transcription	HSMMtube	muscle
19	chr2:151023200-151024200	Weak transcription	NHLF	lung
20	chr2:151023200-151025200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:151023200-151025400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:151023200-151026000	Weak transcription	Aorta	Aorta
23	chr2:151023200-151026000	Weak transcription	Pancreas	Pancrea
24	chr2:151023200-151026200	Enhancers	Hela-S3	cervix
25	chr2:151023400-151024200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:151023400-151025200	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:151023400-151025400	Enhancers	K562	blood
28	chr2:151023400-151026000	Enhancers	Liver	Liver
29	chr2:151023600-151024200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:151023600-151024200	Enhancers	A549	lung
31	chr2:151023600-151025400	Weak transcription	Adipose Nuclei	Adipose
32	chr2:151024000-151025600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:151024000-151026400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:151024000-151026400	Enhancers	NHDF-Ad	bronchial
35	chr2:151024000-151026800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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