Variant report

Variant	rs12135148
Chromosome Location	chr1:193188353-193188354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10494675	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10801170	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10801186	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10921331	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119992	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12122868	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123069	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123511	1.00[CEU][hapmap]
rs12123750	1.00[CEU][hapmap]
rs12123793	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12123970	1.00[CEU][hapmap]
rs12124921	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12124924	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12129126	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12134846	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12135670	1.00[CEU][hapmap]
rs12137391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141029	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs12141336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141559	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12143361	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12143573	1.00[AFR][1000 genomes]
rs12145101	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12145609	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145761	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1325196	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17526825	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17528639	0.94[EUR][1000 genomes]
rs17592121	1.00[CEU][hapmap]
rs17592633	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17593120	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17593414	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2887640	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs28930673	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28930674	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs528790	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6663374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6667917	1.00[AFR][1000 genomes]
rs6682904	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6685991	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731066	0.90[AFR][1000 genomes]
rs72731068	0.95[AFR][1000 genomes]
rs72740227	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740228	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740230	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740243	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740246	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740261	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740270	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740276	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7525157	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs817137	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:193167800-193210400	Weak transcription	Ovary	ovary
5	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
6	chr1:193169000-193190800	Weak transcription	Brain Anterior Caudate	brain
7	chr1:193170200-193191200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:193176800-193203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:193176800-193209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:193177000-193206600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:193178800-193189000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:193179400-193189200	Strong transcription	Primary T cells from cord blood	blood
14	chr1:193179400-193190800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:193180200-193189200	Strong transcription	Primary B cells from cord blood	blood
16	chr1:193180400-193189200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:193180600-193188600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:193180600-193200400	Weak transcription	Fetal Heart	heart
19	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
21	chr1:193181000-193207400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:193181400-193189000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:193181400-193190800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:193181400-193198200	Weak transcription	Hela-S3	cervix
25	chr1:193181600-193189000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:193181600-193189000	Strong transcription	Fetal Thymus	thymus
27	chr1:193181800-193189000	Strong transcription	HSMM	muscle
28	chr1:193181800-193210400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
30	chr1:193182200-193189400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:193182400-193189000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr1:193182600-193188800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:193182600-193189000	Strong transcription	Dnd41	blood
34	chr1:193182800-193188400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:193182800-193188800	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:193182800-193189000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:193182800-193189200	Strong transcription	Liver	Liver
38	chr1:193183400-193211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:193183400-193216000	Weak transcription	NHEK	skin
40	chr1:193184200-193202200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:193184200-193209000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:193184400-193202000	Weak transcription	K562	blood
43	chr1:193184400-193227600	Weak transcription	HMEC	breast
44	chr1:193184800-193188400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:193185000-193204200	Weak transcription	Fetal Kidney	kidney
46	chr1:193185200-193188800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:193185200-193189200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:193185400-193188800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:193185400-193189000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:193185400-193190800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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