Variant report

Variant	rs11888874
Chromosome Location	chr2:73731981-73731982
allele	A/G
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]
rs11889925	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11891452	1.00[AMR][1000 genomes]
rs11893492	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11893870	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11899128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11899368	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11899455	1.00[AMR][1000 genomes]
rs11899542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900923	0.96[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56947864	1.00[AMR][1000 genomes]
rs6726794	1.00[AMR][1000 genomes]
rs6740441	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7596893	0.93[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73707000-73733400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:73711800-73740400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:73713200-73757400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:73715600-73740200	Weak transcription	Esophagus	oesophagus
5	chr2:73715600-73751800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:73715800-73740200	Weak transcription	Gastric	stomach
7	chr2:73717400-73757800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:73718000-73740800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:73718000-73746800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:73718200-73740400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:73718400-73738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:73718400-73740200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:73718600-73732400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:73718600-73740200	Weak transcription	Fetal Kidney	kidney
15	chr2:73718600-73740400	Weak transcription	Thymus	Thymus
16	chr2:73718800-73740200	Weak transcription	Aorta	Aorta
17	chr2:73718800-73740200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:73718800-73740400	Weak transcription	HSMMtube	muscle
19	chr2:73719000-73740200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:73719000-73740400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:73719200-73739800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:73719200-73740200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:73719400-73740400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:73719400-73747000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:73719600-73738200	Weak transcription	Primary T cells from cord blood	blood
26	chr2:73719800-73740200	Weak transcription	Primary B cells from cord blood	blood
27	chr2:73728200-73747000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:73731200-73732000	Strong transcription	Fetal Lung	lung
29	chr2:73731400-73732200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:73731600-73740200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:73731600-73740200	Weak transcription	HSMM	muscle
32	chr2:73731600-73759000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:73731800-73732000	Enhancers	K562	blood
34	chr2:73731800-73732200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:73731800-73739800	Weak transcription	Dnd41	blood
36	chr2:73731800-73740200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:73731800-73746800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:73731800-73752000	Weak transcription	Fetal Heart	heart
39	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix

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