Variant report

Variant	rs1934411
Chromosome Location	chr1:180495628-180495629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180486527..180488396-chr1:180494744..180496710,2	MCF-7	breast:
2	chr1:180495119..180496658-chr1:180599630..180601968,2	K562	blood:
3	chr1:180494413..180495924-chr1:180505668..180507910,2	K562	blood:
4	chr1:180495342..180496951-chr1:180619499..180622464,2	K562	blood:
5	chr1:180491722..180497520-chr1:180497939..180503107,7	MCF-7	breast:
6	chr1:180494034..180495925-chr1:180548786..180551301,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206905	Chromatin interaction
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10157891	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10733004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs10733005	0.85[EUR][1000 genomes]
rs10737343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737345	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753210	1.00[ASN][1000 genomes]
rs10753213	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753214	1.00[ASN][1000 genomes]
rs10753217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10798749	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798764	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913972	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914011	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914019	1.00[ASN][1000 genomes]
rs10914020	1.00[ASN][1000 genomes]
rs1094597	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094598	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094599	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077904	1.00[ASN][1000 genomes]
rs12144149	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565152	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339722	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339723	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339726	1.00[ASN][1000 genomes]
rs1361363	1.00[ASN][1000 genomes]
rs1361628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556938	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591898	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935283	1.00[ASN][1000 genomes]
rs1961741	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153327	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs2153753	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2262371	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2331739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331742	0.88[EUR][1000 genomes]
rs2764435	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764436	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764437	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764438	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764439	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764440	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764441	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764442	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764444	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794975	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794976	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304539	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4333819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4540612	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4609392	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4651061	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4651067	1.00[ASN][1000 genomes]
rs4652501	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4652502	0.96[EUR][1000 genomes]
rs4652506	1.00[ASN][1000 genomes]
rs4652510	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425620	1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425621	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425623	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425624	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667478	1.00[ASN][1000 genomes]
rs6669304	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677367	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678261	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6680754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6683484	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684842	1.00[ASN][1000 genomes]
rs6687873	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691333	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526743	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529042	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7530015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs7532972	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542568	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7543143	1.00[ASN][1000 genomes]
rs7546030	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548707	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7555087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs863720	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863721	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425879	1.00[ASN][1000 genomes]
rs946633	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946635	1.00[CEU][hapmap];0.91[EUR][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	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
2	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180486000-180499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:180488000-180500400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:180488600-180497000	Enhancers	Placenta	Placenta
4	chr1:180491000-180499400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:180491400-180496200	Weak transcription	A549	lung
6	chr1:180491400-180496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:180491400-180499400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
9	chr1:180492200-180495800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:180492400-180496400	Weak transcription	NHEK	skin
11	chr1:180492400-180499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:180492400-180503000	Weak transcription	Pancreas	Pancrea
13	chr1:180492600-180498000	Weak transcription	HSMMtube	muscle
14	chr1:180493000-180496200	Weak transcription	Hela-S3	cervix
15	chr1:180493400-180496600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:180493800-180497000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:180494000-180496800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:180494000-180497200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:180494200-180502200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:180494200-180503000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:180494400-180508200	Weak transcription	Right Ventricle	heart
22	chr1:180494600-180497000	Enhancers	Fetal Intestine Small	intestine
23	chr1:180494600-180503000	Weak transcription	Fetal Lung	lung
24	chr1:180494800-180496600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:180494800-180497200	Enhancers	Fetal Intestine Large	intestine
26	chr1:180495000-180496000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:180495000-180496000	Weak transcription	Right Atrium	heart
28	chr1:180495000-180496200	Weak transcription	HUVEC	blood vessel
29	chr1:180495000-180496200	Weak transcription	NH-A	brain
30	chr1:180495000-180497000	Enhancers	Fetal Heart	heart
31	chr1:180495000-180497200	Enhancers	HMEC	breast
32	chr1:180495000-180499200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:180495000-180499200	Weak transcription	Esophagus	oesophagus
34	chr1:180495000-180499200	Weak transcription	Lung	lung
35	chr1:180495000-180502200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:180495000-180503800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:180495200-180502600	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:180495400-180496000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:180495400-180496400	Weak transcription	Aorta	Aorta
40	chr1:180495400-180496800	Enhancers	HepG2	liver
41	chr1:180495400-180497000	Enhancers	K562	blood
42	chr1:180495600-180496800	Enhancers	Left Ventricle	heart

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