Variant report

Variant	rs73277300
Chromosome Location	chr12:45210238-45210239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs2658991	1.00[AMR][1000 genomes]
rs268033	1.00[AMR][1000 genomes]
rs268038	1.00[AMR][1000 genomes]
rs2703036	1.00[AMR][1000 genomes]
rs2703044	1.00[AMR][1000 genomes]
rs2710427	1.00[AMR][1000 genomes]
rs2710432	1.00[AMR][1000 genomes]
rs58109917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58840891	1.00[AMR][1000 genomes]
rs73275512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275524	1.00[AMR][1000 genomes]
rs73275531	1.00[AMR][1000 genomes]
rs73275551	1.00[AMR][1000 genomes]
rs73279134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279176	1.00[AMR][1000 genomes]
rs73281008	1.00[AMR][1000 genomes]
rs73281095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283039	1.00[AMR][1000 genomes]
rs73287011	1.00[AMR][1000 genomes]
rs73288970	1.00[AMR][1000 genomes]
rs73288973	1.00[AMR][1000 genomes]
rs73288975	1.00[AMR][1000 genomes]
rs73288980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288988	1.00[AMR][1000 genomes]
rs73288990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73288993	1.00[AMR][1000 genomes]
rs73290682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290688	1.00[AMR][1000 genomes]
rs73290690	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45202600-45211200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:45204400-45210800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:45207000-45220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:45207600-45212400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:45207800-45211000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:45207800-45212000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:45208000-45212000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:45208000-45213400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:45208000-45215800	Enhancers	Primary T cells from cord blood	blood
10	chr12:45208200-45210400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:45208400-45213200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:45209000-45212600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:45209200-45212000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:45209400-45211800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:45209400-45211800	Enhancers	Fetal Brain Male	brain
16	chr12:45209800-45210800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:45209800-45211400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:45209800-45211800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:45210000-45213200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:45210200-45210800	Enhancers	Brain Anterior Caudate	brain
21	chr12:45210200-45211400	Enhancers	Fetal Brain Female	brain
22	chr12:45210200-45211400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:45210200-45211800	Enhancers	Duodenum Mucosa	Duodenum
24	chr12:45210200-45211800	Enhancers	Fetal Intestine Small	intestine
25	chr12:45210200-45212000	Enhancers	Fetal Intestine Large	intestine

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