Variant report

Variant	rs946633
Chromosome Location	chr1:180492172-180492173
allele	A/T
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	JUND	chr1:180492158-180492395	HepG2	liver:	n/a	n/a
2	STAT1	chr1:180491240-180492411	Hela-S3	cervix:	n/a	chr1:180491461-180491481 chr1:180491467-180491475
3	POLR2A	chr1:180489712-180492297	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:180491628..180493840-chr1:180599404..180602125,2	MCF-7	breast:
2	chr1:180472964..180474571-chr1:180490356..180493108,2	MCF-7	breast:
3	chr1:180470877..180472880-chr1:180490627..180493125,2	K562	blood:
4	chr1:180491568..180494207-chr1:180499661..180501962,2	MCF-7	breast:
5	chr1:180468948..180471810-chr1:180491211..180493029,2	MCF-7	breast:
6	chr1:180491722..180497520-chr1:180497939..180503107,7	MCF-7	breast:
7	chr1:180490294..180492192-chr1:180552011..180554702,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206905	TF binding region
ENSG00000135847	Chromatin interaction
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10157891	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10733004	0.94[EUR][1000 genomes]
rs10733005	0.83[EUR][1000 genomes]
rs10737343	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737344	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737345	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753210	1.00[ASN][1000 genomes]
rs10753213	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753214	1.00[ASN][1000 genomes]
rs10753217	1.00[ASN][1000 genomes]
rs10798749	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798763	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798764	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913972	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914011	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914019	1.00[ASN][1000 genomes]
rs10914020	1.00[ASN][1000 genomes]
rs10914024	0.84[AFR][1000 genomes]
rs1094597	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094598	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094599	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027553	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077904	1.00[ASN][1000 genomes]
rs12144149	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565152	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339722	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339723	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339726	1.00[ASN][1000 genomes]
rs1361363	1.00[ASN][1000 genomes]
rs1361628	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418100	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418103	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556935	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556938	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591898	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1934411	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935283	1.00[ASN][1000 genomes]
rs1961741	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153327	0.86[EUR][1000 genomes]
rs2153753	1.00[ASN][1000 genomes]
rs2262371	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2331739	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331742	0.86[EUR][1000 genomes]
rs2764434	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764435	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764436	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764437	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764438	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764439	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764440	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764441	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764442	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764444	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794974	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794975	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794976	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259605	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281291	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304539	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4333819	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532796	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4540612	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4609392	1.00[ASN][1000 genomes]
rs4651061	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651063	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4651067	1.00[ASN][1000 genomes]
rs4652501	1.00[ASN][1000 genomes]
rs4652502	0.94[EUR][1000 genomes]
rs4652506	1.00[ASN][1000 genomes]
rs4652510	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425620	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425621	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425622	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425623	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425624	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425626	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425630	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425642	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425647	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659147	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664944	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665615	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667478	1.00[ASN][1000 genomes]
rs6669304	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677367	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678261	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6680754	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682067	0.91[ASN][1000 genomes]
rs6683484	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684842	1.00[ASN][1000 genomes]
rs6687873	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691333	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695360	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526743	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529042	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7530015	0.88[EUR][1000 genomes]
rs7532972	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542568	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7543143	1.00[ASN][1000 genomes]
rs7546030	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548707	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548884	1.00[ASN][1000 genomes]
rs7555087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822704	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863720	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863721	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425879	1.00[ASN][1000 genomes]
rs946634	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946635	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180486000-180493400	Weak transcription	Fetal Stomach	stomach
2	chr1:180486000-180499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:180486400-180493800	Weak transcription	Fetal Lung	lung
4	chr1:180488000-180500400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:180488200-180492200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:180488600-180497000	Enhancers	Placenta	Placenta
7	chr1:180489400-180494400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:180489800-180494400	Weak transcription	HUVEC	blood vessel
9	chr1:180490600-180492400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:180490600-180492600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:180490600-180492800	Enhancers	HMEC	breast
12	chr1:180490800-180492200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:180490800-180492600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:180490800-180493800	Weak transcription	Lung	lung
15	chr1:180491000-180499400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:180491200-180492200	Enhancers	Fetal Intestine Large	intestine
17	chr1:180491200-180492200	Enhancers	Fetal Intestine Small	intestine
18	chr1:180491400-180492600	Enhancers	Left Ventricle	heart
19	chr1:180491400-180493000	Enhancers	Hela-S3	cervix
20	chr1:180491400-180493400	Weak transcription	Right Ventricle	heart
21	chr1:180491400-180493800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:180491400-180494000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:180491400-180496200	Weak transcription	A549	lung
24	chr1:180491400-180496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:180491400-180499400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:180491600-180492200	Enhancers	Fetal Heart	heart
27	chr1:180491600-180492200	Weak transcription	HSMMtube	muscle
28	chr1:180491600-180493200	Weak transcription	Right Atrium	heart
29	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
30	chr1:180491800-180492200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:180491800-180492200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:180491800-180492200	Weak transcription	Pancreas	Pancrea
33	chr1:180491800-180492200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:180491800-180492600	Enhancers	HepG2	liver
35	chr1:180492000-180492400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:180492000-180492400	Enhancers	NHEK	skin
37	chr1:180492000-180494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:180492000-180494000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:180492000-180494800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:180492000-180495400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:180492000-180495400	Weak transcription	K562	blood

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