Variant report

Variant	rs57665268
Chromosome Location	chr12:32123094-32123095
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32107327..32109735-chr12:32121276..32123265,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10506076	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506077	0.80[ASN][1000 genomes]
rs11611750	0.80[ASN][1000 genomes]
rs11613886	0.80[ASN][1000 genomes]
rs12425769	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16919122	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965193	0.80[ASN][1000 genomes]
rs2166808	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931001	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931003	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931589	0.80[ASN][1000 genomes]
rs4931590	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55651717	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55665510	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56042964	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56848191	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56926075	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58883969	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59727209	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60974257	0.87[AFR][1000 genomes]
rs73294852	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73294858	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73294863	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv1040680	chr12:32079034-32124694	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57665268	KIAA1551	cis	Esophagus Muscularis	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32113800-32123400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:32114000-32126200	Weak transcription	HSMM	muscle
3	chr12:32114000-32150800	Weak transcription	NHLF	lung
4	chr12:32114200-32124800	Weak transcription	HSMMtube	muscle
5	chr12:32114400-32123400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:32114400-32124200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:32114400-32132200	Weak transcription	NH-A	brain
8	chr12:32114600-32123200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:32114600-32123200	Weak transcription	NHDF-Ad	bronchial
10	chr12:32114600-32123400	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr12:32114800-32123200	Weak transcription	Colonic Mucosa	Colon
12	chr12:32114800-32134000	Weak transcription	HMEC	breast
13	chr12:32115000-32123800	Weak transcription	Osteobl	bone
14	chr12:32115000-32126200	Weak transcription	NHEK	skin
15	chr12:32115400-32124800	Weak transcription	Stomach Mucosa	stomach
16	chr12:32115600-32124800	Weak transcription	HepG2	liver
17	chr12:32115800-32124800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:32116000-32141800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
20	chr12:32117800-32123200	Weak transcription	Fetal Kidney	kidney
21	chr12:32118000-32123200	Weak transcription	Fetal Brain Male	brain
22	chr12:32118200-32124400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:32119600-32123200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:32119600-32123200	Weak transcription	HUVEC	blood vessel
25	chr12:32119800-32123400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr12:32120000-32123200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:32120000-32123400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:32120000-32124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:32120000-32126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:32120000-32126200	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:32120000-32130200	ZNF genes & repeats	Dnd41	blood
32	chr12:32120200-32123200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:32120200-32123200	Weak transcription	Brain Anterior Caudate	brain
34	chr12:32120200-32123400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:32120200-32124000	Weak transcription	Esophagus	oesophagus
36	chr12:32120200-32124000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:32120200-32124800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:32120200-32124800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:32120200-32132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:32120200-32132200	Weak transcription	Right Ventricle	heart
41	chr12:32120400-32123200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:32120400-32123200	Weak transcription	K562	blood
43	chr12:32120400-32124200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr12:32120400-32124800	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:32120400-32124800	Weak transcription	Fetal Heart	heart
46	chr12:32120600-32125200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr12:32120600-32141600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:32120800-32123200	Weak transcription	Adipose Nuclei	Adipose
49	chr12:32120800-32123800	Weak transcription	Left Ventricle	heart
50	chr12:32120800-32124800	Weak transcription	Gastric	stomach

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