Variant report

Variant	rs2554374
Chromosome Location	chr8:131256398-131256399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10091313	0.89[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes]
rs10113410	0.81[CEU][hapmap];0.80[JPT][hapmap];0.86[TSI][hapmap]
rs1017281	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs10956514	0.81[CHB][hapmap];0.81[CHD][hapmap];0.84[ASN][1000 genomes]
rs1118887	0.81[CHB][hapmap];0.93[YRI][hapmap]
rs12677193	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs12680942	0.83[ASN][1000 genomes]
rs13269464	0.81[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap]
rs1469288	0.81[CHB][hapmap]
rs17282526	0.93[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs17284725	0.81[CHB][hapmap]
rs2005040	0.85[EUR][1000 genomes]
rs2033059	0.81[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs2045092	1.00[ASW][hapmap];0.80[JPT][hapmap]
rs2114196	0.81[CHB][hapmap];0.93[YRI][hapmap]
rs2123870	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs2305513	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[ASN][1000 genomes]
rs2554373	0.82[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2670884	0.82[CEU][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34656350	0.82[ASN][1000 genomes]
rs4733568	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs4733571	0.81[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs4733775	0.81[CHD][hapmap]
rs4733777	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs4733781	0.81[CHB][hapmap];0.80[CHD][hapmap]
rs62525919	0.84[ASN][1000 genomes]
rs6470800	0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap]
rs6470802	0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap]
rs6991975	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs6992305	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs7012705	0.81[CHB][hapmap]
rs7014800	0.90[EUR][1000 genomes]
rs7015970	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs7386417	0.85[CHB][hapmap];0.80[JPT][hapmap];0.84[TSI][hapmap]
rs7460645	0.93[ASW][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]
rs7833007	0.85[CHB][hapmap]
rs7834461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7837226	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7839155	0.81[CHD][hapmap];0.82[MEX][hapmap]
rs876575	0.81[CHB][hapmap]
rs966185	1.00[ASW][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
2	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
5	chr8:131232200-131257000	Weak transcription	Lung	lung
6	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
7	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
8	chr8:131237600-131258000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:131238600-131257000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:131244000-131262400	Weak transcription	Fetal Brain Female	brain
12	chr8:131244400-131259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:131246200-131257200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:131246400-131257000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:131247000-131257000	Weak transcription	Liver	Liver
16	chr8:131247000-131258200	Weak transcription	Pancreas	Pancrea
17	chr8:131248400-131256400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:131248400-131256400	Weak transcription	Psoas Muscle	Psoas
19	chr8:131248400-131257000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:131248400-131257000	Weak transcription	Dnd41	blood
21	chr8:131248400-131258600	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:131248600-131256600	Weak transcription	Fetal Thymus	thymus
23	chr8:131249000-131259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:131250000-131267000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:131250600-131256400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:131250600-131256400	Weak transcription	HSMMtube	muscle
27	chr8:131250600-131256800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:131250600-131256800	Weak transcription	NHEK	skin
29	chr8:131250600-131259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:131250800-131256400	Weak transcription	Ovary	ovary
31	chr8:131250800-131260200	Weak transcription	HMEC	breast
32	chr8:131250800-131266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:131250800-131270600	Weak transcription	NH-A	brain
34	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:131251200-131258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:131251600-131257000	Enhancers	Primary T cells from cord blood	blood
37	chr8:131251600-131257000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr8:131251600-131257000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:131251600-131257000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:131251600-131257400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:131251600-131257600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:131251800-131260200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:131252000-131256600	Weak transcription	HUVEC	blood vessel
44	chr8:131252000-131257000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:131252000-131262800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr8:131252000-131263000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
48	chr8:131252400-131259800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr8:131252400-131260400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:131252400-131260600	Weak transcription	K562	blood

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