Variant report

Variant	rs1806742
Chromosome Location	chr1:224459068-224459069
allele	C/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	POLR2A	chr1:224459004-224459109	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224438656..224441651-chr1:224458875..224461452,2	K562	blood:

Variant related genes	Relation type
NVL	TF binding region

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

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10158063	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10733024	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10737442	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10737443	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10753462	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10753464	1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10799562	0.89[CHB][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10799563	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10799566	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10799567	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10799568	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10916577	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10916585	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11802486	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11811730	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16846031	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16846094	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16846214	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16846244	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2001712	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2001713	1.00[EUR][1000 genomes]
rs2404783	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2404856	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2404857	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2404858	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2404859	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2404861	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2405062	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2405065	1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2405067	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2405070	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2896990	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2896992	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2897054	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754090	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3767721	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3767722	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3767723	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3767724	0.93[ASN][1000 genomes]
rs3767725	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4146965	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4146966	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4233234	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4233235	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4256779	1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4420060	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4457542	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4628473	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653575	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4653579	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4653580	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4653581	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4653583	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653584	1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4654011	0.85[ASN][1000 genomes]
rs4654013	0.85[JPT][hapmap]
rs4654017	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4654019	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4654022	0.90[CHB][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4654023	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4654032	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4654033	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4654034	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55675086	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55980628	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57324770	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58855990	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59106681	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6426088	0.89[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs6426094	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6426100	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6426110	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6426114	0.86[ASN][1000 genomes]
rs6426115	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6426117	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6681790	1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6682667	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6685600	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6691689	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6694745	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6696795	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6699017	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73118046	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73128468	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73130436	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73130448	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73130455	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73130462	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73130464	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7521015	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7522392	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7529143	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7530205	0.88[CHB][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7534101	0.90[CHB][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7534447	1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9287027	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
2	chr1:224412400-224473600	Weak transcription	HepG2	liver
3	chr1:224416000-224465600	Weak transcription	Small Intestine	intestine
4	chr1:224424600-224479600	Weak transcription	Pancreas	Pancrea
5	chr1:224425600-224470000	Weak transcription	NHDF-Ad	bronchial
6	chr1:224431200-224490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
8	chr1:224434400-224474800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:224434400-224474800	Weak transcription	Fetal Brain Male	brain
10	chr1:224436800-224473600	Weak transcription	Gastric	stomach
11	chr1:224437000-224475200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:224437000-224476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:224437000-224479600	Weak transcription	Right Ventricle	heart
14	chr1:224437600-224474800	Weak transcription	Colonic Mucosa	Colon
15	chr1:224437800-224462000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:224438000-224460800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:224438000-224461200	Weak transcription	Lung	lung
18	chr1:224438000-224474600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:224439800-224461800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:224439800-224501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:224440000-224460800	Weak transcription	Spleen	Spleen
22	chr1:224440400-224474800	Weak transcription	Fetal Kidney	kidney
23	chr1:224444600-224479600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:224445400-224482000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:224446000-224470600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:224449200-224460000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:224449400-224460400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:224450000-224463400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:224450200-224459200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:224450200-224459400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:224450200-224460400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:224450400-224459200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:224450400-224470000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:224450600-224473600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:224450800-224463400	Weak transcription	Stomach Mucosa	stomach
36	chr1:224450800-224472200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:224450800-224480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:224451000-224469800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:224451200-224459400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:224451600-224460000	Strong transcription	Fetal Intestine Small	intestine
41	chr1:224451600-224462200	Strong transcription	Fetal Stomach	stomach
42	chr1:224451800-224459200	Strong transcription	Fetal Intestine Large	intestine
43	chr1:224452200-224459400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:224452200-224463400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:224452400-224469200	Weak transcription	Aorta	Aorta
46	chr1:224452800-224472400	Weak transcription	Brain Germinal Matrix	brain
47	chr1:224453200-224459200	Strong transcription	K562	blood
48	chr1:224453400-224459400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:224453400-224459400	Strong transcription	Fetal Thymus	thymus
50	chr1:224453600-224459200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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