Variant report

Variant	rs12523647
Chromosome Location	chr5:75863987-75863988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75861596..75864384-chr5:75866146..75868439,3	K562	blood:
2	chr5:75858031..75860083-chr5:75863526..75866442,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10462543	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12513400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513594	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12513678	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12519094	0.89[ASN][1000 genomes]
rs12519329	0.87[ASN][1000 genomes]
rs12519473	0.87[ASN][1000 genomes]
rs12521026	0.91[ASN][1000 genomes]
rs1501788	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs1566	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17680732	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17680756	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17680811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17748322	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2270908	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3736394	0.82[JPT][hapmap]
rs3756514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3797382	0.89[ASN][1000 genomes]
rs3797388	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.85[ASN][1000 genomes]
rs3912001	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4289539	0.84[ASN][1000 genomes]
rs4703713	0.92[ASN][1000 genomes]
rs4704329	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4704340	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55699952	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56110610	0.89[ASN][1000 genomes]
rs56338424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58087114	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60881227	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61014011	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61233297	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs869733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs873787	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs879017	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv598681	chr5:75863987-75902533	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:75835600-75871200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:75843800-75884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:75845400-75876600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:75846800-75902600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:75851800-75892000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:75852000-75864400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:75852800-75877800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:75852800-75877800	Weak transcription	Small Intestine	intestine
9	chr5:75853200-75896400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:75856400-75873000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:75857400-75866200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:75857600-75864000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:75858000-75864000	Strong transcription	Primary B cells from cord blood	blood
14	chr5:75858800-75866000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:75858800-75876600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:75859000-75866000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:75859000-75866200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr5:75859000-75873200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:75859000-75878600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:75859800-75864800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr5:75860800-75872000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:75861200-75864600	Enhancers	Stomach Mucosa	stomach
23	chr5:75861200-75872200	Weak transcription	Fetal Lung	lung
24	chr5:75861200-75889600	Weak transcription	Fetal Stomach	stomach
25	chr5:75861400-75878600	Weak transcription	Pancreas	Pancrea
26	chr5:75861600-75866000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:75861600-75866200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:75862000-75866400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr5:75862200-75885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:75862400-75865600	Weak transcription	Placenta	Placenta
31	chr5:75862400-75867600	Weak transcription	Fetal Brain Male	brain
32	chr5:75862600-75866200	Weak transcription	Liver	Liver
33	chr5:75862600-75873600	Weak transcription	HepG2	liver
34	chr5:75862600-75877800	Weak transcription	K562	blood
35	chr5:75862800-75880200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:75863000-75864200	Weak transcription	Fetal Intestine Small	intestine
37	chr5:75863000-75866200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr5:75863000-75866200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:75863200-75864400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:75863200-75866000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:75863400-75866400	Weak transcription	Primary T cells from cord blood	blood
42	chr5:75863400-75872800	Weak transcription	Gastric	stomach
43	chr5:75863600-75864600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:75863600-75866000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:75863800-75866000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:75863800-75866200	Weak transcription	Primary T cells fromperipheralblood	blood

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