Variant report

Variant	rs595888
Chromosome Location	chr1:186174823-186174824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10157742	1.00[LWK][hapmap]
rs10798036	1.00[LWK][hapmap]
rs10911808	1.00[LWK][hapmap]
rs10911816	1.00[LWK][hapmap]
rs12039709	0.84[EUR][1000 genomes]
rs1569989	1.00[LWK][hapmap]
rs4651299	1.00[LWK][hapmap]
rs4651302	1.00[LWK][hapmap]
rs625988	0.82[EUR][1000 genomes]
rs6665753	1.00[LWK][hapmap]
rs676236	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs680638	0.80[CEU][hapmap]
rs716756	1.00[LWK][hapmap]
rs7555520	1.00[LWK][hapmap]
rs7555906	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1007237	chr1:186137724-186226502	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1009149	chr1:186147945-186206188	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1002503	chr1:186156060-186206188	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1003070	chr1:186157240-186202008	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1010055	chr1:186167933-186216740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1009057	chr1:186171374-186203808	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1009983	chr1:186171374-186206188	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1009827	chr1:186171374-186216740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv1008469	chr1:186171374-186226502	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv998436	chr1:186171719-186206188	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv1012840	chr1:186172843-186216740	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv1002201	chr1:186173178-186204057	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186161800-186182000	Weak transcription	Aorta	Aorta
2	chr1:186165200-186177200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:186171400-186176400	Weak transcription	Osteobl	bone
4	chr1:186171600-186175000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:186171600-186176400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:186171800-186176400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:186171800-186176400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:186172000-186177000	Weak transcription	NHLF	lung
9	chr1:186172200-186175400	Weak transcription	Fetal Lung	lung
10	chr1:186172400-186175000	Weak transcription	NHDF-Ad	bronchial
11	chr1:186172400-186176400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:186173400-186176400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:186174000-186178400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:186174600-186175800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:186174600-186176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:186174800-186175600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:186174800-186175600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:186174800-186175600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:186174800-186175800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:186174800-186176000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:186174800-186176000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr1:186174800-186176200	Enhancers	Primary T cells from cord blood	blood
23	chr1:186174800-186176400	Enhancers	Cortex derived primary cultured neurospheres	brain

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