Variant report

Variant	rs12109754
Chromosome Location	chr5:75875379-75875380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75873843..75876744-chr5:75876856..75878367,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10055118	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10072548	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12657065	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2270907	0.86[ASN][1000 genomes]
rs3797376	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3822528	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs4704338	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs62361995	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6875519	0.84[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6893849	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73121895	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7710523	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7735089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7735600	0.85[CHB][hapmap];0.94[JPT][hapmap]

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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75843800-75884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:75845400-75876600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:75846800-75902600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:75851800-75892000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:75852800-75877800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:75852800-75877800	Weak transcription	Small Intestine	intestine
7	chr5:75853200-75896400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:75858800-75876600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:75859000-75878600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:75861200-75889600	Weak transcription	Fetal Stomach	stomach
11	chr5:75861400-75878600	Weak transcription	Pancreas	Pancrea
12	chr5:75862200-75885400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:75862600-75877800	Weak transcription	K562	blood
14	chr5:75862800-75880200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:75864600-75876200	Weak transcription	Stomach Mucosa	stomach
16	chr5:75864600-75876600	Weak transcription	Fetal Intestine Small	intestine
17	chr5:75864600-75878200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:75864800-75878200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:75865400-75885800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:75867200-75876600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:75867800-75886000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:75868000-75878200	Weak transcription	Primary B cells from cord blood	blood
23	chr5:75868000-75878600	Weak transcription	Placenta	Placenta
24	chr5:75868000-75884400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:75868000-75885200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr5:75868000-75885400	Weak transcription	Primary T cells from cord blood	blood
27	chr5:75869200-75876800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:75870200-75875400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:75870400-75875400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:75871400-75876400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:75871400-75876800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:75871400-75878800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:75872600-75878400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:75873000-75876800	Weak transcription	Gastric	stomach
35	chr5:75873600-75876600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:75873600-75877000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:75873600-75877000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:75873600-75903600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:75873800-75877800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:75874000-75876200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:75874000-75876600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:75874000-75877800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr5:75874000-75878400	Weak transcription	Fetal Lung	lung
44	chr5:75874000-75892400	Weak transcription	Spleen	Spleen
45	chr5:75874200-75875600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:75874200-75876400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:75874200-75878600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:75874200-75878600	Weak transcription	HepG2	liver
49	chr5:75874200-75882000	Weak transcription	Esophagus	oesophagus
50	chr5:75875000-75876400	Weak transcription	Liver	Liver

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