Variant report

Variant	rs4844494
Chromosome Location	chr1:209972198-209972199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209970042..209972449-chr1:209978125..209979735,2	K562	blood:
2	chr1:209956612..209959583-chr1:209971561..209974310,2	MCF-7	breast:
3	chr1:209957462..209959935-chr1:209968588..209972462,3	K562	blood:
4	chr1:209970799..209973393-chr1:209981570..209983608,2	K562	blood:

Variant related genes	Relation type
ENSG00000162757	Chromatin interaction
ENSG00000117595	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10489343	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10779514	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10779515	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10863789	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10863790	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1109430	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119345	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11119346	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119347	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119348	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119360	1.00[AFR][1000 genomes]
rs11585733	1.00[AFR][1000 genomes]
rs11589335	1.00[AFR][1000 genomes]
rs12058100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12062600	1.00[AFR][1000 genomes]
rs12063989	1.00[AFR][1000 genomes]
rs12064085	1.00[AFR][1000 genomes]
rs12064211	1.00[AFR][1000 genomes]
rs12064398	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12066340	1.00[AFR][1000 genomes]
rs12069187	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12075674	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12080691	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12081405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12083685	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12405750	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12561766	1.00[AFR][1000 genomes]
rs12563527	1.00[AFR][1000 genomes]
rs12566152	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13306422	1.00[AFR][1000 genomes]
rs17015217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015255	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015268	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1856161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1883332	1.00[AFR][1000 genomes]
rs2038053	1.00[AFR][1000 genomes]
rs2069068	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2076149	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2076151	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2142860	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2235370	0.94[AMR][1000 genomes]
rs2235371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235377	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272866	1.00[AFR][1000 genomes]
rs2282740	1.00[AFR][1000 genomes]
rs2294406	0.84[AMR][1000 genomes]
rs3753517	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41274836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4140636	0.80[EUR][1000 genomes]
rs4329516	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4844491	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4844496	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4844893	1.00[AFR][1000 genomes]
rs4844894	1.00[AFR][1000 genomes]
rs4844908	1.00[AFR][1000 genomes]
rs57283682	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv4343	chr1:209929932-209974877	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1067914	chr1:209955818-209972979	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209957800-209978600	Weak transcription	Spleen	Spleen
2	chr1:209958400-209974000	Weak transcription	Aorta	Aorta
3	chr1:209958400-209978600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:209958600-209978800	Weak transcription	Right Ventricle	heart
5	chr1:209961000-209974600	Weak transcription	Right Atrium	heart
6	chr1:209961600-209974600	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr1:209962000-209972600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:209962200-209977800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:209963000-209978800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:209964200-209976000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:209964200-209977800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:209964200-209978000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:209964400-209978200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:209965200-209975400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:209965800-209974600	Weak transcription	Small Intestine	intestine
16	chr1:209966000-209973000	Weak transcription	Left Ventricle	heart
17	chr1:209966000-209976200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr1:209966000-209978000	Weak transcription	Colonic Mucosa	Colon
19	chr1:209966000-209978400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:209966200-209974600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr1:209968400-209975000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:209968600-209974200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:209968800-209974600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:209969000-209972600	Weak transcription	Placenta	Placenta
25	chr1:209969000-209976400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:209969000-209978600	Weak transcription	Lung	lung
27	chr1:209970000-209973200	Weak transcription	HUVEC	blood vessel
28	chr1:209970000-209975400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:209970600-209972800	Weak transcription	Liver	Liver
30	chr1:209970800-209972600	Enhancers	Stomach Mucosa	stomach
31	chr1:209971000-209974800	Genic enhancers	NHEK	skin
32	chr1:209971000-209976000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:209971200-209972400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:209971200-209972400	Weak transcription	Esophagus	oesophagus
35	chr1:209971200-209974200	Genic enhancers	HMEC	breast
36	chr1:209971200-209974600	Weak transcription	Fetal Heart	heart
37	chr1:209971400-209972600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:209971800-209972800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:209971800-209974400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:209972000-209972400	Weak transcription	Fetal Intestine Small	intestine
41	chr1:209972000-209972600	Weak transcription	Gastric	stomach
42	chr1:209972000-209973600	Strong transcription	Pancreas	Pancrea
43	chr1:209972000-209974000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:209972000-209974200	Strong transcription	Fetal Intestine Large	intestine
45	chr1:209972000-209978400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:209972000-209978600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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