Variant report

Variant	rs2699891
Chromosome Location	chr3:178911429-178911430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178899086..178902051-chr3:178909040..178911935,2	K562	blood:
2	chr3:178910913..178913212-chr3:178917675..178920478,2	K562	blood:
3	chr3:178899086..178902333-chr3:178909040..178911935,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13082485	0.91[ASN][1000 genomes]
rs13099856	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1517586	0.82[ASN][1000 genomes]
rs2542298	0.80[ASN][1000 genomes]
rs2677763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2677764	0.91[ASN][1000 genomes]
rs2677770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2699887	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2699893	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2699905	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2699906	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4955801	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6784495	0.82[ASN][1000 genomes]
rs73187259	0.91[ASN][1000 genomes]
rs9968179	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178887200-178912000	Weak transcription	Thymus	Thymus
2	chr3:178896800-178912200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:178896800-178912400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:178897800-178919400	Weak transcription	Fetal Intestine Small	intestine
5	chr3:178899200-178951800	Weak transcription	K562	blood
6	chr3:178900000-178929800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:178900400-178912200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:178900400-178912400	Weak transcription	NH-A	brain
9	chr3:178900600-178912000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:178900600-178912000	Weak transcription	Left Ventricle	heart
11	chr3:178900600-178912200	Weak transcription	Pancreas	Pancrea
12	chr3:178900800-178912400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:178900800-178913400	Weak transcription	Osteobl	bone
14	chr3:178901000-178913200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:178901200-178912600	Weak transcription	Liver	Liver
16	chr3:178902800-178912000	Weak transcription	Fetal Thymus	thymus
17	chr3:178904000-178918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:178904400-178912400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:178904400-178912800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:178904400-178912800	Weak transcription	Brain Substantia Nigra	brain
21	chr3:178904600-178913000	Weak transcription	Primary B cells from cord blood	blood
22	chr3:178904800-178916400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:178905000-178912200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:178906200-178912200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:178906400-178912600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:178906400-178962400	Weak transcription	HepG2	liver
27	chr3:178907800-178912000	Weak transcription	Right Atrium	heart
28	chr3:178907800-178912400	Weak transcription	Primary T cells from cord blood	blood
29	chr3:178907800-178912800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:178908000-178913000	Weak transcription	NHLF	lung
31	chr3:178908000-178913400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:178908000-178913400	Weak transcription	NHDF-Ad	bronchial
33	chr3:178908000-178917600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:178908000-178918400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:178908000-178919800	Weak transcription	Brain Angular Gyrus	brain
36	chr3:178908000-178923600	Weak transcription	Fetal Brain Female	brain
37	chr3:178908200-178912200	Weak transcription	HSMMtube	muscle
38	chr3:178908200-178912400	Weak transcription	HSMM	muscle
39	chr3:178908200-178912600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:178908200-178913000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:178908200-178913000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:178908200-178913200	Weak transcription	Brain Anterior Caudate	brain
43	chr3:178908400-178912800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:178908600-178912000	Weak transcription	Right Ventricle	heart
45	chr3:178908600-178912200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr3:178908600-178912200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:178908600-178913000	Weak transcription	Adipose Nuclei	Adipose
48	chr3:178908600-178913200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:178908800-178912600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:178908800-178912800	Weak transcription	H1 Cell Line	embryonic stem cell

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