Variant report

Variant	rs6703727
Chromosome Location	chr1:193083022-193083023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193082431..193083952-chr1:193102861..193105016,2	K562	blood:
2	chr1:193082948..193084568-chr1:193088755..193090637,2	MCF-7	breast:
3	chr1:193081847..193088145-chr1:193088466..193091962,12	MCF-7	breast:
4	chr1:193081962..193084481-chr1:193085010..193087899,2	MCF-7	breast:
5	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
6	chr1:193077939..193080817-chr1:193081124..193083059,2	MCF-7	breast:
7	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:

Variant related genes	Relation type
ENSG00000238754	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10399607	0.80[EUR][1000 genomes]
rs10494674	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10733078	0.99[ASN][1000 genomes]
rs10737620	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10737621	0.90[ASN][1000 genomes]
rs10737622	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10754044	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10754046	0.89[ASN][1000 genomes]
rs10754047	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10754048	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10754049	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10754052	0.80[EUR][1000 genomes]
rs10754053	0.80[EUR][1000 genomes]
rs10801167	0.89[ASN][1000 genomes]
rs10801173	0.96[ASN][1000 genomes]
rs10801174	0.99[ASN][1000 genomes]
rs10801175	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10801177	0.89[ASN][1000 genomes]
rs10801178	0.86[ASN][1000 genomes]
rs10801179	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801180	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801182	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10801183	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10801184	0.84[ASN][1000 genomes]
rs10921304	0.81[ASN][1000 genomes]
rs10921305	0.90[ASN][1000 genomes]
rs10921308	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921310	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921312	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921317	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10921319	0.87[ASN][1000 genomes]
rs10921325	0.80[EUR][1000 genomes]
rs11577299	0.86[ASN][1000 genomes]
rs11583763	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12086884	0.92[ASN][1000 genomes]
rs12090626	0.86[ASN][1000 genomes]
rs12126529	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12137318	0.87[ASN][1000 genomes]
rs12141392	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12145057	0.87[ASN][1000 genomes]
rs12735445	0.92[ASN][1000 genomes]
rs1325197	0.80[EUR][1000 genomes]
rs1536097	0.80[EUR][1000 genomes]
rs1539724	0.86[ASN][1000 genomes]
rs1555555	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1890660	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2181408	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2182106	0.80[EUR][1000 genomes]
rs2186016	0.87[ASN][1000 genomes]
rs2275444	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2370028	0.87[ASN][1000 genomes]
rs2370029	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2370079	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2370081	0.89[ASN][1000 genomes]
rs3753948	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3806351	0.91[ASN][1000 genomes]
rs3818865	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3820417	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3945872	0.92[ASN][1000 genomes]
rs4450000	0.89[ASN][1000 genomes]
rs4657744	0.87[ASN][1000 genomes]
rs4657745	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4657840	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4657842	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4657843	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4657845	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657846	0.91[ASN][1000 genomes]
rs4657847	0.91[ASN][1000 genomes]
rs4657848	0.80[EUR][1000 genomes]
rs4658079	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6428151	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6428152	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6428153	0.80[EUR][1000 genomes]
rs6428154	0.80[EUR][1000 genomes]
rs6663431	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6665069	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665666	0.80[EUR][1000 genomes]
rs6671237	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6672649	0.89[ASN][1000 genomes]
rs6675833	0.81[EUR][1000 genomes]
rs6676322	0.92[ASN][1000 genomes]
rs6676416	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6676878	0.80[EUR][1000 genomes]
rs6680224	0.80[EUR][1000 genomes]
rs6692342	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6692805	0.90[ASN][1000 genomes]
rs7514072	0.87[ASN][1000 genomes]
rs7519242	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7534257	0.86[ASN][1000 genomes]
rs7542466	0.96[ASN][1000 genomes]
rs7545223	0.80[EUR][1000 genomes]
rs7547615	0.99[ASN][1000 genomes]
rs7553247	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs912070	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs912071	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9427838	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9783104	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193075000-193090400	Weak transcription	Right Atrium	heart
2	chr1:193075200-193084800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:193075400-193084000	Weak transcription	HUVEC	blood vessel
4	chr1:193075600-193084600	Weak transcription	Fetal Heart	heart
5	chr1:193080600-193085400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:193080600-193085400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:193081200-193083400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:193081200-193084800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:193081200-193090400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:193081400-193083400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:193081400-193084600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:193081400-193084600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:193081400-193084600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:193081400-193084600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:193081400-193084600	Weak transcription	HSMM	muscle
16	chr1:193081400-193084600	Weak transcription	NHEK	skin
17	chr1:193081400-193085000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:193081400-193085200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:193081600-193084000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:193081600-193084600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:193081600-193084600	Weak transcription	Fetal Intestine Small	intestine
22	chr1:193081600-193084600	Weak transcription	Hela-S3	cervix
23	chr1:193081600-193084600	Weak transcription	HMEC	breast
24	chr1:193081600-193084600	Weak transcription	HSMMtube	muscle
25	chr1:193081600-193084800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:193081600-193090600	Weak transcription	Lung	lung
27	chr1:193081800-193084000	Weak transcription	Osteobl	bone
28	chr1:193081800-193084200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:193081800-193084600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:193081800-193084600	Weak transcription	Fetal Intestine Large	intestine
31	chr1:193082000-193083400	Flanking Active TSS	K562	blood
32	chr1:193082000-193084800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:193082200-193083400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:193082200-193083600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:193082200-193084600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:193082400-193083200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:193082400-193083200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:193082400-193083200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:193082400-193083400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:193082400-193083600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:193082400-193085400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:193082400-193085600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:193082600-193083200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:193082600-193083200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:193082800-193083200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:193082800-193084000	Weak transcription	NH-A	brain
47	chr1:193082800-193084200	Flanking Active TSS	A549	lung
48	chr1:193082800-193085400	Enhancers	NHLF	lung
49	chr1:193082800-193085800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:193082800-193085800	Enhancers	Liver	Liver

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