Variant report

Variant	rs1863935
Chromosome Location	chr5:74916818-74916819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74915137..74918881-chr5:74947780..74950531,3	K562	blood:
2	chr5:74913060..74915078-chr5:74915803..74919443,3	K562	blood:
3	chr5:74915137..74917681-chr5:74948612..74950531,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10038723	0.89[EUR][1000 genomes]
rs10043621	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10044053	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10060260	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10067641	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075139	0.93[EUR][1000 genomes]
rs10434644	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10474436	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1051795	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10942739	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13354407	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1427924	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17739580	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1863934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995267	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2287711	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs253392	0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs253393	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs253407	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs253408	0.88[ASN][1000 genomes]
rs253409	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2878519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2878520	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213801	0.94[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34340	0.94[ASN][1000 genomes]
rs34344	0.86[ASN][1000 genomes]
rs34345	0.86[ASN][1000 genomes]
rs34350	0.81[ASN][1000 genomes]
rs4045166	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4385188	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4440336	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4703674	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4704224	0.83[EUR][1000 genomes]
rs4704228	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57149337	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57312935	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5744533	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5744555	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5744575	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5744595	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5744598	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744601	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744621	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5744663	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5744703	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59506842	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61430233	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6453134	0.80[EUR][1000 genomes]
rs67969809	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6861279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6863398	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6872314	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6874781	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6886841	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6891949	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73120833	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7445415	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs767676	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7706857	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7709282	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7717505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7723531	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924452	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9293656	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9332464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74907800-74921400	Weak transcription	Aorta	Aorta
2	chr5:74907800-74921400	Weak transcription	Lung	lung
3	chr5:74908200-74918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:74908200-74919600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:74908200-74923600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:74908600-74918000	Weak transcription	Small Intestine	intestine
7	chr5:74908600-74920400	Enhancers	Fetal Intestine Small	intestine
8	chr5:74912600-74917200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:74913600-74918400	Weak transcription	HSMM	muscle
10	chr5:74913800-74918200	Weak transcription	Colonic Mucosa	Colon
11	chr5:74913800-74919800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:74913800-74921400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:74913800-74921600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:74913800-74922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:74913800-74922800	Weak transcription	Ovary	ovary
16	chr5:74913800-74923600	Weak transcription	Esophagus	oesophagus
17	chr5:74913800-74923600	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:74913800-74933600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:74914000-74917800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:74914000-74918200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:74914000-74918200	Weak transcription	NH-A	brain
22	chr5:74914000-74919400	Weak transcription	HSMMtube	muscle
23	chr5:74914000-74919800	Weak transcription	Fetal Stomach	stomach
24	chr5:74914000-74923400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:74914000-74930800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:74914200-74919400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:74915000-74925800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:74915400-74917000	Enhancers	NHEK	skin
29	chr5:74915400-74917200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:74915400-74917400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:74915400-74917400	Enhancers	Fetal Intestine Large	intestine
32	chr5:74915600-74918400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr5:74915600-74921800	Enhancers	Stomach Mucosa	stomach
34	chr5:74915800-74917400	Enhancers	HepG2	liver
35	chr5:74915800-74920000	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:74916000-74917400	Enhancers	Liver	Liver
37	chr5:74916200-74917000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:74916400-74917800	Weak transcription	HMEC	breast
39	chr5:74916600-74917000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:74916600-74917000	Enhancers	Gastric	stomach
41	chr5:74916600-74917000	Enhancers	Pancreas	Pancrea
42	chr5:74916600-74917400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr5:74916600-74931800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr5:74916800-74917200	Enhancers	Placenta	Placenta
45	chr5:74916800-74918400	Weak transcription	A549	lung
46	chr5:74916800-74919600	Weak transcription	K562	blood

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