Variant report

Variant	rs12121043
Chromosome Location	chr1:180470867-180470868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180470530..180472800-chr1:181059348..181062070,2	MCF-7	breast:
2	chr1:180470531..180473320-chr1:180599332..180602016,2	K562	blood:
3	chr1:180469616..180471969-chr1:181074123..181075942,2	K562	blood:
4	chr1:180470764..180472384-chr1:180991464..180993107,2	MCF-7	breast:
5	chr1:180469285..180472037-chr1:180483861..180487907,3	K562	blood:
6	chr1:179922809..179925375-chr1:180469288..180472844,3	MCF-7	breast:
7	chr1:180470493..180473506-chr1:180597830..180602116,4	MCF-7	breast:
8	chr1:180438874..180441365-chr1:180469997..180471942,2	K562	blood:
9	chr1:180208860..180211195-chr1:180470402..180471972,2	MCF-7	breast:
10	chr1:180468948..180471810-chr1:180491211..180493029,2	MCF-7	breast:
11	chr1:180470101..180473441-chr1:181055955..181060608,7	K562	blood:
12	chr1:180139648..180141218-chr1:180469440..180471988,2	MCF-7	breast:
13	chr1:180167194..180169146-chr1:180469710..180471466,2	MCF-7	breast:
14	chr1:180470305..180472005-chr1:180744201..180746153,2	K562	blood:
15	chr1:180221964..180223660-chr1:180469973..180471619,2	MCF-7	breast:
16	chr1:180470474..180472036-chr1:181074031..181076331,2	K562	blood:
17	chr1:180197528..180200245-chr1:180468948..180472883,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135823	Chromatin interaction
ENSG00000121454	Chromatin interaction
ENSG00000260360	Chromatin interaction
ENSG00000143324	Chromatin interaction
ENSG00000272198	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000162783	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10158367	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10465516	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10494527	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753208	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10753209	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753211	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753212	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753216	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10798745	0.84[ASN][1000 genomes]
rs10798746	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798756	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798757	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798759	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798760	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798762	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798766	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798767	0.80[ASN][1000 genomes]
rs10798769	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798770	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798771	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10913968	0.88[ASN][1000 genomes]
rs10913973	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10913974	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913976	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913978	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913980	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913981	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913982	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913983	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913984	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913985	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10913986	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913987	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913998	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10914001	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10914002	0.80[ASN][1000 genomes]
rs10914005	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10914010	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914014	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10914016	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914017	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10914018	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10914023	0.83[EUR][1000 genomes]
rs11580793	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11799870	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12024201	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12034217	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12122338	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12127886	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12128560	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12129511	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12129784	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12131071	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12132837	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12135463	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12136111	0.83[EUR][1000 genomes]
rs12141348	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12141848	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12142124	0.80[ASN][1000 genomes]
rs12143350	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12561776	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12565492	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12730889	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12733492	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12749611	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1416821	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1538620	0.94[ASN][1000 genomes]
rs1970400	0.88[ASN][1000 genomes]
rs2105232	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2147774	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2296378	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3806300	0.81[ASN][1000 genomes]
rs3806301	0.92[ASN][1000 genomes]
rs3923222	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4076403	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4142992	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4418555	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4420052	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4421553	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4442335	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4562579	0.80[ASN][1000 genomes]
rs4578179	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4593778	0.80[ASN][1000 genomes]
rs4607831	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4634864	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4651064	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4652493	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4652504	0.89[ASN][1000 genomes]
rs4652505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425641	0.88[ASN][1000 genomes]
rs6665719	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6670544	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6674244	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6680368	0.80[ASN][1000 genomes]
rs6687442	0.90[ASN][1000 genomes]
rs6687549	0.90[ASN][1000 genomes]
rs6697924	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6699585	0.89[ASN][1000 genomes]
rs6700986	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6704334	0.89[ASN][1000 genomes]
rs6704437	0.89[ASN][1000 genomes]
rs7523003	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7523857	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7528650	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7532806	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7540276	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7543366	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9726041	0.90[ASN][1000 genomes]
rs9730180	0.90[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	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
7	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 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	chr1:180437600-180471000	Weak transcription	Lung	lung
2	chr1:180455600-180471000	Weak transcription	Left Ventricle	heart
3	chr1:180456000-180471000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:180458000-180471000	Weak transcription	Aorta	Aorta
5	chr1:180459200-180471000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:180468200-180471000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:180468200-180472600	Active TSS	GM12878-XiMat	blood
8	chr1:180468600-180471000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:180469400-180471000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:180469600-180471200	Flanking Active TSS	Dnd41	blood
11	chr1:180469800-180471000	Enhancers	Colon Smooth Muscle	Colon
12	chr1:180469800-180471000	Flanking Active TSS	Hela-S3	cervix
13	chr1:180469800-180471200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:180470000-180471000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:180470000-180471000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:180470000-180471000	Weak transcription	Gastric	stomach
17	chr1:180470000-180471200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:180470000-180471400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:180470000-180471400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:180470000-180472200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:180470000-180472200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:180470000-180472800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:180470200-180471000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:180470200-180471000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:180470200-180471000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:180470200-180471000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:180470200-180471000	Enhancers	Small Intestine	intestine
28	chr1:180470200-180471200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:180470200-180471200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:180470200-180471400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:180470200-180472200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr1:180470200-180472200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr1:180470200-180472400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:180470200-180472400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:180470200-180472400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:180470200-180472400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:180470200-180472600	Active TSS	Fetal Kidney	kidney
38	chr1:180470200-180472600	Active TSS	Fetal Lung	lung
39	chr1:180470200-180472800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:180470400-180471000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:180470400-180471000	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr1:180470400-180471200	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr1:180470400-180471200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr1:180470400-180471400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr1:180470400-180471400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr1:180470400-180471600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:180470400-180472200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:180470400-180472400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:180470400-180472400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:180470400-180472400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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