Variant report

Variant	rs2088305
Chromosome Location	chr8:86180800-86180801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86170519..86173141-chr8:86177699..86180911,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10110030	1.00[CHD][hapmap]
rs11261470	1.00[LWK][hapmap]
rs11777847	1.00[CHD][hapmap]
rs12547362	1.00[TSI][hapmap]
rs13269739	1.00[YRI][hapmap]
rs13279878	1.00[CHD][hapmap]
rs16913694	1.00[LWK][hapmap]
rs16913798	1.00[CHD][hapmap]
rs2088306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap]
rs2173045	1.00[YRI][hapmap]
rs2432069	1.00[LWK][hapmap]
rs28374574	1.00[CHD][hapmap]

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	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86158400-86180800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:86158400-86185800	Weak transcription	Lung	lung
3	chr8:86158400-86188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:86158400-86188200	Weak transcription	Esophagus	oesophagus
5	chr8:86158400-86191400	Weak transcription	Pancreas	Pancrea
6	chr8:86158800-86185600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:86158800-86185800	Weak transcription	Fetal Stomach	stomach
8	chr8:86158800-86186800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:86158800-86189600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:86158800-86191400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:86167600-86182600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:86167800-86185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:86168000-86187800	Weak transcription	HMEC	breast
14	chr8:86168000-86196200	Weak transcription	NHEK	skin
15	chr8:86168000-86199000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:86169600-86180800	Weak transcription	Fetal Lung	lung
17	chr8:86170600-86191800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:86170800-86204400	Weak transcription	Ovary	ovary
19	chr8:86172200-86191400	Weak transcription	Primary T cells from cord blood	blood
20	chr8:86173400-86181000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:86174600-86198200	Weak transcription	Left Ventricle	heart
22	chr8:86175200-86182600	Enhancers	HepG2	liver
23	chr8:86175800-86191200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:86175800-86191800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:86176400-86195000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:86176800-86187800	Weak transcription	Primary B cells from cord blood	blood
27	chr8:86177200-86187600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:86177600-86191200	Weak transcription	Right Ventricle	heart
29	chr8:86178000-86198200	Weak transcription	Aorta	Aorta
30	chr8:86178200-86181400	Enhancers	Fetal Intestine Small	intestine
31	chr8:86178200-86182600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:86178200-86183200	Weak transcription	GM12878-XiMat	blood
33	chr8:86178200-86184200	Weak transcription	Brain Angular Gyrus	brain
34	chr8:86178200-86193400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:86178400-86180800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:86178600-86180800	Weak transcription	Small Intestine	intestine
37	chr8:86178600-86185600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:86179000-86191200	Weak transcription	Stomach Mucosa	stomach
39	chr8:86179200-86181000	Enhancers	Duodenum Mucosa	Duodenum
40	chr8:86179200-86181200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:86179200-86182800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:86179800-86180800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:86179800-86182000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:86179800-86185800	Weak transcription	Gastric	stomach
45	chr8:86180000-86185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:86180000-86187200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:86180200-86184200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:86180400-86181400	Enhancers	Fetal Intestine Large	intestine
49	chr8:86180400-86182400	Strong transcription	Liver	Liver
50	chr8:86180600-86182800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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