Variant report

Variant	rs12917597
Chromosome Location	chr15:35172057-35172058
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	chr15:35169980..35172331-chr15:35175029..35176671,2	K562	blood:
2	chr15:35169980..35173467-chr15:35175029..35177005,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10152246	0.91[ASN][1000 genomes]
rs10519967	0.96[ASN][1000 genomes]
rs11633307	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11852957	0.85[ASN][1000 genomes]
rs11855784	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857217	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11858044	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593379	0.96[ASN][1000 genomes]
rs12593818	0.93[ASN][1000 genomes]
rs12595318	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12708534	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12898639	0.93[ASN][1000 genomes]
rs12899377	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12901028	0.93[ASN][1000 genomes]
rs12901457	0.91[ASN][1000 genomes]
rs12901991	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12902633	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12904279	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12915493	0.91[ASN][1000 genomes]
rs12917386	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1376784	0.96[ASN][1000 genomes]
rs16959966	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2044920	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060811	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2123048	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290320	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2339746	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743121	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3816447	0.90[ASN][1000 genomes]
rs3848167	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513050	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4923817	0.95[ASN][1000 genomes]
rs4923818	0.90[ASN][1000 genomes]
rs4924324	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924325	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924339	0.93[ASN][1000 genomes]
rs4924344	0.93[ASN][1000 genomes]
rs4924355	0.93[ASN][1000 genomes]
rs4924357	0.91[ASN][1000 genomes]
rs4924369	0.90[ASN][1000 genomes]
rs6495723	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6495724	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6495726	0.89[ASN][1000 genomes]
rs7164977	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7165835	0.95[ASN][1000 genomes]
rs7167892	0.93[ASN][1000 genomes]
rs7170737	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7171808	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7177337	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7177962	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7179833	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7182356	0.81[EUR][1000 genomes]
rs7182492	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7497306	0.93[ASN][1000 genomes]
rs8025770	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8031583	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8031677	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8036690	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8040551	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs959478	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs963425	0.91[ASN][1000 genomes]
rs9806487	0.90[ASN][1000 genomes]
rs9920529	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9920918	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv457106	chr15:35049787-35227613	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv569153	chr15:35049787-35227613	Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2761865	chr15:35101678-35271639	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv832967	chr15:35110102-35267906	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv904071	chr15:35150897-35250771	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv904072	chr15:35150897-35259376	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv569154	chr15:35165366-35259376	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 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	chr15:35140400-35221600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:35142600-35180200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:35142600-35185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:35145200-35198200	Weak transcription	Colonic Mucosa	Colon
5	chr15:35145600-35184600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr15:35145800-35185400	Weak transcription	Psoas Muscle	Psoas
7	chr15:35146400-35175400	Weak transcription	Small Intestine	intestine
8	chr15:35146600-35184800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:35146600-35185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:35146800-35183200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr15:35146800-35185200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:35146800-35185200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:35148200-35185400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:35148400-35175200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:35149800-35184400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:35150200-35172400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:35150400-35185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:35152200-35184400	Weak transcription	Stomach Mucosa	stomach
19	chr15:35153800-35184400	Weak transcription	Fetal Heart	heart
20	chr15:35153800-35185200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:35154000-35178200	Weak transcription	NHLF	lung
22	chr15:35154000-35185200	Weak transcription	Gastric	stomach
23	chr15:35154000-35185600	Weak transcription	Fetal Brain Male	brain
24	chr15:35155200-35184400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:35156800-35184800	Strong transcription	HSMM	muscle
26	chr15:35157600-35185200	Weak transcription	Aorta	Aorta
27	chr15:35157600-35185200	Weak transcription	Esophagus	oesophagus
28	chr15:35157800-35185200	Weak transcription	Spleen	Spleen
29	chr15:35159600-35184800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:35161800-35175000	Weak transcription	Brain Substantia Nigra	brain
31	chr15:35161800-35178200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:35161800-35178800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:35161800-35179400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:35161800-35185200	Weak transcription	Brain Angular Gyrus	brain
35	chr15:35161800-35185200	Weak transcription	Right Ventricle	heart
36	chr15:35162000-35175600	Weak transcription	Brain Hippocampus Middle	brain
37	chr15:35162000-35184800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:35162000-35184800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr15:35162200-35184600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:35162400-35179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:35162400-35184200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:35162600-35184800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:35163200-35176200	Strong transcription	Primary T cells from cord blood	blood
44	chr15:35165000-35183000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:35165000-35184200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:35165000-35185400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:35165400-35172600	Strong transcription	Fetal Lung	lung
48	chr15:35165400-35173000	Strong transcription	Fetal Intestine Large	intestine
49	chr15:35166000-35174200	Strong transcription	Primary B cells from cord blood	blood
50	chr15:35167200-35173400	Weak transcription	Brain Germinal Matrix	brain

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