Variant report

Variant	rs2334322
Chromosome Location	chr6:110568246-110568247
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:110567589..110570352-chr6:110572433..110574667,2	K562	blood:
2	chr6:110567589..110570454-chr6:110572413..110574667,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11753534	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11758244	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071278	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17071283	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17071325	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17071330	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071351	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071358	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41288578	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41288582	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612198	0.92[ASN][1000 genomes]
rs4945852	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4947049	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4947059	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4947060	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55649499	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55692748	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55827800	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55868300	0.98[ASN][1000 genomes]
rs55927920	1.00[ASN][1000 genomes]
rs55956228	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56112056	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56197201	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56222826	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56398409	1.00[ASN][1000 genomes]
rs61497634	0.83[ASN][1000 genomes]
rs6909242	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6918148	0.92[JPT][hapmap]
rs6933258	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs6934170	0.98[ASN][1000 genomes]
rs73765688	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746681	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7749663	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7766653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7766757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7766850	0.86[AMR][1000 genomes]
rs9481045	0.83[AMR][1000 genomes]
rs9481048	0.90[AMR][1000 genomes]
rs9481050	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9487321	0.90[AMR][1000 genomes]
rs9487325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9487327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9487331	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9487333	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9487334	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9487335	0.98[ASN][1000 genomes]
rs9487336	0.98[ASN][1000 genomes]
rs9487337	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948824	chr6:110443685-110889332	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv949643	chr6:110537685-110889332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110539000-110580200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:110547000-110576600	Weak transcription	Pancreas	Pancrea
3	chr6:110549400-110580400	Weak transcription	Brain Angular Gyrus	brain
4	chr6:110549600-110568600	Weak transcription	Left Ventricle	heart
5	chr6:110550600-110608200	Weak transcription	Fetal Kidney	kidney
6	chr6:110554000-110571400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:110554400-110572600	Weak transcription	Aorta	Aorta
8	chr6:110555400-110568400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:110555400-110570800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:110555600-110568600	Weak transcription	Brain Anterior Caudate	brain
11	chr6:110555600-110570000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:110556000-110571400	Weak transcription	Primary T cells from cord blood	blood
13	chr6:110557800-110570600	Weak transcription	Primary B cells from cord blood	blood
14	chr6:110559200-110572400	Weak transcription	Liver	Liver
15	chr6:110559400-110571200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:110559400-110572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:110559400-110573400	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:110564400-110571000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:110567200-110568600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:110567400-110568800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:110567400-110574200	Weak transcription	Fetal Stomach	stomach
22	chr6:110567400-110604600	Weak transcription	Ovary	ovary
23	chr6:110567600-110604600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:110568000-110570400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:110568000-110571200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:110568200-110569000	Enhancers	HepG2	liver

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