Variant report

Variant	rs3779999
Chromosome Location	chr8:59744222-59744223
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	chr8:59721636..59723625-chr8:59743079..59744812,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10504264	0.83[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs16924095	0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs16924124	0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2122015	0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs3779998	0.92[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.91[ASN][1000 genomes]
rs57569962	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57636927	0.85[ASN][1000 genomes]
rs61049278	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992462	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6999284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008234	0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs73243052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73243060	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243092	0.85[ASN][1000 genomes]
rs73249047	0.85[ASN][1000 genomes]
rs73249050	0.80[ASN][1000 genomes]
rs7817609	0.81[JPT][hapmap]
rs7820385	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826293	1.00[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr8:59714600-59746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:59715200-59757400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:59720600-59754800	Weak transcription	Small Intestine	intestine
4	chr8:59720800-59745200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:59720800-59762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:59721000-59745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:59721400-59745000	Weak transcription	Fetal Brain Male	brain
8	chr8:59721600-59745400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:59722400-59757200	Strong transcription	Dnd41	blood
10	chr8:59727000-59745400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:59729600-59754800	Weak transcription	Gastric	stomach
12	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
13	chr8:59732000-59745000	Weak transcription	Fetal Kidney	kidney
14	chr8:59732200-59755200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:59734000-59745200	Weak transcription	Fetal Brain Female	brain
16	chr8:59737200-59745000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:59737600-59745000	Weak transcription	Brain Germinal Matrix	brain
18	chr8:59738600-59745400	Enhancers	NHDF-Ad	bronchial
19	chr8:59739000-59745400	Enhancers	NHLF	lung
20	chr8:59739000-59746200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:59739000-59753200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:59739200-59745200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:59739400-59745000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:59739400-59745400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:59739400-59745400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:59739400-59748200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:59739400-59748600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:59739400-59749200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:59739400-59750000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:59739600-59745200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:59739600-59745200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:59739600-59748200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:59740000-59745200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:59740200-59745000	Weak transcription	Primary T cells from cord blood	blood
35	chr8:59740200-59745200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:59740200-59746200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:59740200-59746400	Weak transcription	Thymus	Thymus
38	chr8:59740400-59745000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:59740400-59745200	Weak transcription	HSMMtube	muscle
40	chr8:59740400-59745400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:59740400-59745400	Enhancers	Osteobl	bone
42	chr8:59740800-59749000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:59742000-59745200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:59742000-59745400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:59742000-59746000	Weak transcription	Stomach Mucosa	stomach
46	chr8:59742200-59745000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:59742200-59745000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:59742200-59745200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:59742600-59745000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:59742600-59745200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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