Variant report

Variant	rs318858
Chromosome Location	chr8:50832841-50832842
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:50832548..50835126-chr8:50839783..50841421,2	K562	blood:

Extended variants
information (count: 176 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs10086004	0.82[ASN][1000 genomes]
rs10089399	0.82[ASN][1000 genomes]
rs10090657	0.82[ASN][1000 genomes]
rs10092384	0.82[ASN][1000 genomes]
rs10096242	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10107423	0.82[ASN][1000 genomes]
rs10111730	0.82[ASN][1000 genomes]
rs1038534	0.82[ASN][1000 genomes]
rs10504093	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1074385	0.82[ASN][1000 genomes]
rs10957620	0.82[ASN][1000 genomes]
rs10957679	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10957681	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10957682	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1157932	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11773979	0.82[ASN][1000 genomes]
rs11776388	0.91[EUR][1000 genomes]
rs11777957	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs11778027	0.91[EUR][1000 genomes]
rs11781675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11782772	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11783503	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11783631	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs11784278	0.91[EUR][1000 genomes]
rs11784738	0.91[EUR][1000 genomes]
rs11785147	0.82[ASN][1000 genomes]
rs11786880	0.96[EUR][1000 genomes]
rs11786939	0.82[ASN][1000 genomes]
rs11787050	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12541363	0.84[CHB][hapmap]
rs12542536	0.84[AMR][1000 genomes]
rs12545695	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12547245	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12677051	0.82[ASN][1000 genomes]
rs13251355	0.82[ASN][1000 genomes]
rs13255117	0.82[ASN][1000 genomes]
rs13261298	0.82[ASN][1000 genomes]
rs13264385	0.87[ASN][1000 genomes]
rs13267366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1344326	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1352112	0.82[ASN][1000 genomes]
rs1385974	0.82[ASN][1000 genomes]
rs1385975	0.82[ASN][1000 genomes]
rs1385980	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1385982	0.82[ASN][1000 genomes]
rs1486241	0.82[ASN][1000 genomes]
rs1486242	0.82[ASN][1000 genomes]
rs1486243	0.82[ASN][1000 genomes]
rs1486251	0.82[ASN][1000 genomes]
rs1486252	0.82[ASN][1000 genomes]
rs1486253	0.82[ASN][1000 genomes]
rs1486254	0.82[ASN][1000 genomes]
rs1486258	0.85[ASN][1000 genomes]
rs1486263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552372	0.82[ASN][1000 genomes]
rs1552373	0.82[ASN][1000 genomes]
rs1552375	0.81[ASN][1000 genomes]
rs1552377	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1552379	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1580468	0.82[ASN][1000 genomes]
rs1586364	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1601569	0.82[ASN][1000 genomes]
rs16912794	0.82[ASN][1000 genomes]
rs16913087	0.82[ASN][1000 genomes]
rs16913461	0.82[ASN][1000 genomes]
rs16913472	0.82[ASN][1000 genomes]
rs16913475	0.82[ASN][1000 genomes]
rs16913687	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16914039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979535	0.82[ASN][1000 genomes]
rs1994344	0.82[ASN][1000 genomes]
rs2129162	0.82[ASN][1000 genomes]
rs2129164	0.82[ASN][1000 genomes]
rs2170953	0.82[ASN][1000 genomes]
rs2247368	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2385545	0.82[ASN][1000 genomes]
rs2385546	0.82[ASN][1000 genomes]
rs2385547	0.82[ASN][1000 genomes]
rs2385554	0.85[ASN][1000 genomes]
rs2385696	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2385697	0.82[ASN][1000 genomes]
rs2449960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2449961	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2449962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2450286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2628420	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs28869911	1.00[ASN][1000 genomes]
rs318850	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs318851	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs318853	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs318854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs318859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs318874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379601	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3812426	0.83[ASN][1000 genomes]
rs404309	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs404686	0.90[AMR][1000 genomes]
rs412929	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4242456	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs4339657	0.81[ASN][1000 genomes]
rs4383988	0.82[ASN][1000 genomes]
rs442875	0.81[YRI][hapmap]
rs451034	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs453906	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4584153	0.82[ASN][1000 genomes]
rs4634657	0.87[EUR][1000 genomes]
rs4873113	0.82[ASN][1000 genomes]
rs4873114	0.82[ASN][1000 genomes]
rs4873116	0.82[ASN][1000 genomes]
rs4873118	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873119	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873120	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873121	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4873123	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs4873382	0.81[ASN][1000 genomes]
rs4873383	0.82[ASN][1000 genomes]
rs4873388	0.82[ASN][1000 genomes]
rs4873391	0.82[ASN][1000 genomes]
rs4873392	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4873401	0.91[EUR][1000 genomes]
rs55636909	0.81[ASN][1000 genomes]
rs55780592	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55879210	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56040457	0.87[EUR][1000 genomes]
rs56659775	0.82[ASN][1000 genomes]
rs57462717	0.82[ASN][1000 genomes]
rs58764084	0.82[ASN][1000 genomes]
rs59240550	0.91[EUR][1000 genomes]
rs59379959	0.82[ASN][1000 genomes]
rs59679832	0.91[EUR][1000 genomes]
rs59848488	0.82[ASN][1000 genomes]
rs60213702	0.82[ASN][1000 genomes]
rs60631955	0.82[ASN][1000 genomes]
rs61662535	0.82[ASN][1000 genomes]
rs6472721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6472838	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6472839	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6984738	0.81[ASN][1000 genomes]
rs6988440	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6994224	0.82[ASN][1000 genomes]
rs7002291	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7002909	0.81[ASN][1000 genomes]
rs7003221	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7003721	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7004973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008449	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7008924	0.81[ASN][1000 genomes]
rs7013903	0.82[ASN][1000 genomes]
rs73582706	0.82[ASN][1000 genomes]
rs73582713	0.82[ASN][1000 genomes]
rs73582718	0.81[ASN][1000 genomes]
rs73582724	0.82[ASN][1000 genomes]
rs73582755	0.82[ASN][1000 genomes]
rs73582756	0.82[ASN][1000 genomes]
rs73676077	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7388392	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7825552	0.82[ASN][1000 genomes]
rs7828311	0.82[ASN][1000 genomes]
rs7828900	1.00[CEU][hapmap];0.84[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833377	1.00[CEU][hapmap]
rs923060	0.84[ASN][1000 genomes]
rs9298228	0.82[ASN][1000 genomes]
rs9298229	0.82[ASN][1000 genomes]
rs964011	0.82[ASN][1000 genomes]
rs9643685	0.82[ASN][1000 genomes]
rs967107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs974740	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs974742	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9886451	0.82[ASN][1000 genomes]
rs993553	0.91[EUR][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	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50828200-50833800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:50828600-50836000	Weak transcription	Fetal Brain Female	brain
3	chr8:50828800-50834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:50829800-50833400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:50830000-50833600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:50830200-50834800	Weak transcription	Brain Germinal Matrix	brain
7	chr8:50830600-50833200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:50830600-50833400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:50831200-50833200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:50831800-50834800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:50832000-50841800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:50832800-50833000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:50832800-50833000	Enhancers	HUES6 Cell Line	embryonic stem cell

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