Variant report

Variant	rs11899128
Chromosome Location	chr2:73766938-73766939
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11884059	1.00[AMR][1000 genomes]
rs11884321	1.00[AMR][1000 genomes]
rs11888874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11889925	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11891452	1.00[AMR][1000 genomes]
rs11893492	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11893870	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11899368	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11899455	1.00[AMR][1000 genomes]
rs11899542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11902529	1.00[AMR][1000 genomes]
rs1916106	1.00[AMR][1000 genomes]
rs34384696	1.00[AMR][1000 genomes]
rs35356857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56947864	1.00[AMR][1000 genomes]
rs6726794	1.00[AMR][1000 genomes]
rs6740441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7596893	0.96[AFR][1000 genomes];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	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
2	chr2:73741000-73767400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:73744200-73799800	Weak transcription	NH-A	brain
4	chr2:73747800-73786800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:73758000-73799800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:73758200-73785800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:73758200-73800200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:73758400-73786800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:73759400-73774200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
11	chr2:73760400-73767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:73760400-73769200	Weak transcription	Gastric	stomach
13	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
14	chr2:73760800-73787000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:73761000-73767000	Weak transcription	Psoas Muscle	Psoas
16	chr2:73762000-73786600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:73762600-73767000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr2:73762600-73767000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr2:73763200-73767000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr2:73763400-73767000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:73763800-73767000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:73763800-73785200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:73764200-73777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:73764200-73785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:73764400-73785800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:73764600-73806800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:73764600-73807200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:73765000-73767000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:73765200-73785000	Weak transcription	Fetal Kidney	kidney
30	chr2:73765200-73786600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:73765200-73807800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:73765400-73767600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr2:73765400-73786200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:73765400-73786200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:73765400-73786200	Weak transcription	HSMM	muscle
36	chr2:73765400-73792000	Weak transcription	HSMMtube	muscle
37	chr2:73765400-73808400	Weak transcription	HepG2	liver
38	chr2:73765600-73774600	Weak transcription	Primary T cells from cord blood	blood
39	chr2:73765600-73786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:73765600-73786200	Weak transcription	Fetal Lung	lung
41	chr2:73765600-73787200	Weak transcription	A549	lung
42	chr2:73765600-73799600	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:73765800-73768600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:73765800-73777000	Weak transcription	Dnd41	blood
45	chr2:73765800-73777200	Weak transcription	Liver	Liver
46	chr2:73765800-73815400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
48	chr2:73766000-73777800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:73766000-73785000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:73766000-73786000	Weak transcription	Duodenum Mucosa	Duodenum

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