Variant report

Variant	rs1233042
Chromosome Location	chr12:48055705-48055706
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	chr12:48049652..48051782-chr12:48054886..48057074,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10875679	0.97[ASN][1000 genomes]
rs1153975	0.80[ASN][1000 genomes]
rs1232985	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1232987	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1233044	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233045	0.99[ASN][1000 genomes]
rs1233046	0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs1233047	1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs1233049	0.97[ASN][1000 genomes]
rs1233050	1.00[ASN][1000 genomes]
rs1233052	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1233053	0.95[ASN][1000 genomes]
rs1233055	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1233061	0.93[ASN][1000 genomes]
rs1234820	0.82[ASN][1000 genomes]
rs1235151	0.98[ASN][1000 genomes]
rs2022526	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2155794	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2155795	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2524317	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2847431	0.85[AMR][1000 genomes]
rs2847433	1.00[ASN][1000 genomes]
rs587577	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs590089	0.80[ASN][1000 genomes]
rs603042	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs605026	0.81[ASN][1000 genomes]
rs611208	0.80[ASN][1000 genomes]
rs612096	0.82[ASN][1000 genomes]
rs618038	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61917588	0.92[ASN][1000 genomes]
rs61919786	0.85[AMR][1000 genomes]
rs623947	0.80[ASN][1000 genomes]
rs628070	0.92[ASN][1000 genomes]
rs652457	0.82[ASN][1000 genomes]
rs652543	0.80[ASN][1000 genomes]
rs652898	0.82[ASN][1000 genomes]
rs657246	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs663945	0.80[ASN][1000 genomes]
rs666154	0.82[ASN][1000 genomes]
rs681100	0.84[ASN][1000 genomes]
rs682782	0.80[ASN][1000 genomes]
rs688815	0.92[ASN][1000 genomes]
rs948392	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs948394	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv695	chr12:48043261-48088221	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv518487	chr12:48051456-48057791	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
3	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
5	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
7	chr12:48042200-48058400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:48042400-48060200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:48043400-48080000	Weak transcription	NHEK	skin
10	chr12:48045200-48059600	Weak transcription	HMEC	breast
11	chr12:48045200-48060200	Weak transcription	Spleen	Spleen
12	chr12:48045200-48079200	Weak transcription	NHLF	lung
13	chr12:48045400-48055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:48045600-48055800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:48045600-48055800	Weak transcription	Hela-S3	cervix
16	chr12:48045600-48056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:48045600-48062200	Weak transcription	Stomach Mucosa	stomach
18	chr12:48045800-48058200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:48045800-48058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:48046000-48058400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:48046200-48068000	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:48046400-48061200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:48046600-48057800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:48046600-48058200	Weak transcription	Brain Substantia Nigra	brain
25	chr12:48046600-48058400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:48046600-48060000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:48046600-48060000	Weak transcription	Fetal Kidney	kidney
28	chr12:48046600-48083000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:48046600-48087800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:48046600-48090000	Weak transcription	Psoas Muscle	Psoas
31	chr12:48046600-48097000	Weak transcription	Brain Angular Gyrus	brain
32	chr12:48046600-48097600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:48046600-48099200	Weak transcription	Gastric	stomach
34	chr12:48046800-48056400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:48046800-48058200	Weak transcription	HSMMtube	muscle
36	chr12:48046800-48058400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:48046800-48058400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:48046800-48058400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:48046800-48079200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:48046800-48083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:48046800-48098600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:48046800-48099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:48047200-48056600	Strong transcription	Primary T cells from cord blood	blood
44	chr12:48048000-48061200	Weak transcription	HepG2	liver
45	chr12:48050200-48065800	Weak transcription	Fetal Heart	heart
46	chr12:48050200-48098600	Weak transcription	Pancreas	Pancrea
47	chr12:48050800-48058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:48051200-48058400	Weak transcription	Lung	lung
49	chr12:48051200-48061000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:48051400-48057000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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