Variant report

Variant	rs4304349
Chromosome Location	chr8:117734036-117734037
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10089833	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108262	0.88[ASN][1000 genomes]
rs10111411	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10156225	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808483	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11775890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779352	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12155774	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375316	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12547108	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13257365	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13260809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264928	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28431802	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34007155	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35792844	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4129066	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4406425	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4637871	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4876673	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876677	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4876678	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62510182	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6995719	0.85[ASN][1000 genomes]
rs6995838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7004009	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7011256	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9792358	0.85[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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117722000-117735600	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:117722000-117740800	Weak transcription	NHLF	lung
3	chr8:117722400-117738800	Weak transcription	Small Intestine	intestine
4	chr8:117722600-117740800	Weak transcription	HSMMtube	muscle
5	chr8:117724600-117738800	Weak transcription	Psoas Muscle	Psoas
6	chr8:117726800-117735800	Weak transcription	HSMM	muscle
7	chr8:117728000-117740800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:117728000-117740800	Weak transcription	Osteobl	bone
9	chr8:117728600-117740400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:117728800-117739400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:117729000-117736000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:117730400-117735000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:117730600-117734800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:117730800-117736800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:117731200-117736600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr8:117731200-117739400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:117731400-117737600	Weak transcription	Fetal Brain Male	brain
18	chr8:117731400-117739400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:117731400-117740200	ZNF genes & repeats	GM12878-XiMat	blood
20	chr8:117732000-117736400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr8:117732200-117734400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:117732200-117734800	ZNF genes & repeats	A549	lung
23	chr8:117732200-117735400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:117732600-117734200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:117732600-117734200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr8:117732600-117734200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:117732600-117734400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:117732600-117734400	Strong transcription	Gastric	stomach
29	chr8:117732600-117734400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr8:117732600-117734600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:117732600-117734600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:117732600-117734600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr8:117732600-117734600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
34	chr8:117732600-117734600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:117732600-117734600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:117732600-117734600	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr8:117732600-117734600	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr8:117732600-117734600	Strong transcription	Left Ventricle	heart
39	chr8:117732600-117734600	ZNF genes & repeats	Thymus	Thymus
40	chr8:117732600-117734600	ZNF genes & repeats	HepG2	liver
41	chr8:117732600-117734800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr8:117732600-117734800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr8:117732600-117734800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
44	chr8:117732600-117734800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:117732600-117734800	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr8:117732600-117734800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr8:117732600-117734800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr8:117732600-117735000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr8:117732600-117735000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:117732600-117735000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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