Variant report

Variant	rs1995794
Chromosome Location	chr5:118751289-118751290
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118746206..118749496-chr5:118750368..118755239,5	K562	blood:
2	chr5:118655474..118659015-chr5:118750147..118754859,4	K562	blood:
3	chr5:118656369..118659015-chr5:118750147..118752975,4	K562	blood:
4	chr5:118745362..118747706-chr5:118750248..118751868,2	K562	blood:
5	chr5:118603398..118605235-chr5:118750769..118753133,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10077888	0.84[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1047322	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10478421	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10478422	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1105769	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1105770	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11205	0.91[CHB][hapmap]
rs11241507	0.91[CHB][hapmap]
rs1155777	0.91[CHB][hapmap]
rs11949608	0.86[CHB][hapmap]
rs1490756	0.86[CHB][hapmap]
rs1509144	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs150938	0.91[CHB][hapmap]
rs154632	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs165995	0.85[CHB][hapmap]
rs17145464	0.86[CHB][hapmap]
rs1848554	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs193346	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2455466	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2455467	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2457222	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs250303	0.85[JPT][hapmap]
rs257969	0.86[CHB][hapmap]
rs257985	0.91[CHB][hapmap]
rs258047	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs258050	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs258051	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2914210	0.91[CHB][hapmap]
rs32643	0.80[ASN][1000 genomes]
rs3733855	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3797368	0.95[CHB][hapmap]
rs3797372	0.91[CHB][hapmap]
rs3822527	0.81[CHB][hapmap]
rs455991	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6874848	0.81[JPT][hapmap]
rs6888436	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6888463	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6893184	0.91[EUR][1000 genomes]
rs7716785	0.90[CHB][hapmap]
rs7721752	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs924623	0.84[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.82[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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv965533	chr5:118738884-118762384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:118747800-118753400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:118748000-118752200	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:118748000-118752600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:118748000-118753600	Weak transcription	HMEC	breast
6	chr5:118748000-118753600	Weak transcription	NH-A	brain
7	chr5:118748000-118753800	Weak transcription	NHEK	skin
8	chr5:118748000-118754000	Weak transcription	Esophagus	oesophagus
9	chr5:118748000-118754400	Weak transcription	Placenta	Placenta
10	chr5:118748000-118755400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:118748200-118752600	Weak transcription	K562	blood
12	chr5:118748200-118753200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:118748200-118753200	Weak transcription	Dnd41	blood
14	chr5:118748200-118753400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:118748200-118753400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:118748200-118753600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:118748200-118753600	Weak transcription	Primary T cells from cord blood	blood
18	chr5:118748200-118753600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:118748200-118753600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:118748200-118753600	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:118748200-118755000	Weak transcription	Liver	Liver
22	chr5:118748600-118753400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:118748800-118752600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:118748800-118753000	Weak transcription	Hela-S3	cervix
25	chr5:118748800-118753600	Weak transcription	Brain Angular Gyrus	brain
26	chr5:118748800-118753800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:118750400-118752800	Weak transcription	Stomach Mucosa	stomach
28	chr5:118750400-118753200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:118750400-118753400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:118750400-118753400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:118750400-118753800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:118750800-118752600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:118750800-118753200	Weak transcription	Primary B cells from cord blood	blood

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