Variant report

Variant	rs2444894
Chromosome Location	chr8:99020910-99020911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99020262..99022328-chr8:99024233..99025913,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10093417	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1378122	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1454713	0.88[JPT][hapmap]
rs2010016	0.82[ASN][1000 genomes]
rs2061052	0.88[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2255317	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2331692	0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2444857	0.83[JPT][hapmap]
rs2444859	0.98[ASN][1000 genomes]
rs2444866	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs2444898	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447488	0.82[ASN][1000 genomes]
rs2513806	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2513808	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513815	0.92[ASN][1000 genomes]
rs2513817	0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2513819	0.81[ASN][1000 genomes]
rs2513823	0.83[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2959642	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs748324	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv15294	chr8:99017130-99025235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
3	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
4	chr8:99009600-99022600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:99012000-99028800	Weak transcription	Aorta	Aorta
6	chr8:99012000-99032000	Weak transcription	Gastric	stomach
7	chr8:99012400-99028800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:99014000-99022400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:99014200-99025400	Genic enhancers	Fetal Muscle Leg	muscle
10	chr8:99014200-99029600	Weak transcription	Fetal Intestine Large	intestine
11	chr8:99014600-99021200	Enhancers	Brain Cingulate Gyrus	brain
12	chr8:99014600-99021400	Enhancers	Brain Hippocampus Middle	brain
13	chr8:99014800-99022600	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr8:99014800-99023000	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:99015200-99022000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:99015200-99023600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:99015400-99021200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:99015800-99023800	Weak transcription	Spleen	Spleen
20	chr8:99016400-99021400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:99016400-99021400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:99016600-99021400	Enhancers	Brain Angular Gyrus	brain
23	chr8:99016600-99021400	Enhancers	Brain Anterior Caudate	brain
24	chr8:99016800-99023000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:99017000-99025400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:99017200-99022800	Weak transcription	Right Ventricle	heart
27	chr8:99017400-99023400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:99018000-99025000	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr8:99018200-99022600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:99018200-99024000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:99018400-99022400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:99018600-99021400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:99018800-99021400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:99019000-99021000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:99019000-99033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:99019200-99022600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:99019400-99021000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:99019400-99021000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr8:99019400-99025200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr8:99019600-99021000	Strong transcription	Liver	Liver
41	chr8:99019800-99021200	Enhancers	Fetal Lung	lung
42	chr8:99019800-99021400	Enhancers	Brain Germinal Matrix	brain
43	chr8:99019800-99022000	Enhancers	NHDF-Ad	bronchial
44	chr8:99019800-99025400	Genic enhancers	Fetal Stomach	stomach
45	chr8:99020000-99021000	Genic enhancers	Ovary	ovary
46	chr8:99020000-99022200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:99020000-99022400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:99020000-99022400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:99020000-99024600	Enhancers	HSMM	muscle
50	chr8:99020000-99033400	Weak transcription	Left Ventricle	heart

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