Variant report

Variant	rs4743183
Chromosome Location	chr9:100949887-100949888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100944644..100946666-chr9:100948714..100950226,2	K562	blood:
2	chr9:100949619..100951381-chr9:100952944..100954937,2	K562	blood:

Variant related genes	Relation type
ENSG00000106789	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10760184	0.97[ASN][1000 genomes]
rs10818575	0.83[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs10818584	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10818607	0.93[EUR][1000 genomes]
rs10985340	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10985358	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10985359	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10985360	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10985367	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10985508	0.90[CHD][hapmap]
rs11791308	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11791479	0.96[ASN][1000 genomes]
rs12238262	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12353091	1.00[ASN][1000 genomes]
rs16913615	0.83[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs16913616	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16913619	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16913640	0.83[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.81[MEX][hapmap];0.93[ASN][1000 genomes]
rs16913644	0.83[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2282432	0.84[CHD][hapmap];0.93[JPT][hapmap]
rs3758258	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3780454	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes]
rs3824452	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4743184	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55752813	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55754658	0.93[EUR][1000 genomes]
rs56358945	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57124873	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59025844	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59604725	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100931800-100954400	Weak transcription	Right Atrium	heart
2	chr9:100932800-100951200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr9:100933400-100951400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:100933800-100950200	Weak transcription	Colonic Mucosa	Colon
5	chr9:100933800-100951400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr9:100934400-100954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:100935400-100953000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:100935400-100953000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:100935400-100953200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:100936000-100953000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr9:100936000-100953200	Weak transcription	Gastric	stomach
12	chr9:100937800-100951400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:100937800-100953200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:100938000-100952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:100938000-100953000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:100940000-100951400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:100940400-100952400	Genic enhancers	Fetal Intestine Small	intestine
18	chr9:100941800-100954000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:100942800-100953400	Weak transcription	Primary T cells from cord blood	blood
20	chr9:100943400-100951400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr9:100943400-100952600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr9:100943600-100951400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:100945000-100950000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:100945000-100953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:100945000-100953600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:100945200-100950000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:100945600-100951600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr9:100945800-100952400	Weak transcription	Stomach Mucosa	stomach
29	chr9:100947200-100950000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:100947600-100951400	Weak transcription	HepG2	liver
31	chr9:100947800-100951200	Weak transcription	Thymus	Thymus
32	chr9:100948200-100950000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:100948200-100953000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:100948200-100953200	Weak transcription	Primary B cells from cord blood	blood
35	chr9:100948200-100953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:100948200-100953400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:100948400-100950200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:100948400-100950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:100948400-100950200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr9:100948400-100951200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:100948400-100953000	Weak transcription	Lung	lung
42	chr9:100948400-100953200	Weak transcription	Esophagus	oesophagus
43	chr9:100948400-100953600	Weak transcription	Spleen	Spleen
44	chr9:100948400-100954000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr9:100948600-100950200	Weak transcription	HMEC	breast
46	chr9:100948600-100951000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr9:100948600-100951400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr9:100948600-100952400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr9:100948600-100953600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:100948600-100953600	Weak transcription	Monocytes-CD14+_RO01746	blood

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