Variant report

Variant	rs2911598
Chromosome Location	chr1:85068361-85068362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85062635..85064532-chr1:85066699..85068510,2	K562	blood:
2	chr1:84971513..84973895-chr1:85067584..85070054,2	K562	blood:

Variant related genes	Relation type
ENSG00000122432	Chromatin interaction
ENSG00000174021	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12119873	0.85[EUR][1000 genomes]
rs12123470	0.83[EUR][1000 genomes]
rs12127160	0.85[EUR][1000 genomes]
rs12141472	0.81[CEU][hapmap]
rs12145771	0.84[EUR][1000 genomes]
rs1417295	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1517601	0.85[EUR][1000 genomes]
rs1914477	0.85[EUR][1000 genomes]
rs2203455	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2303306	0.93[CHB][hapmap];0.80[ASN][1000 genomes]
rs2303307	0.87[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2911588	0.84[ASN][1000 genomes]
rs2911589	0.93[CHB][hapmap];0.80[ASN][1000 genomes]
rs2911590	0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs2911591	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2911592	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2911597	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2911599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911603	0.81[CHB][hapmap]
rs2911607	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2911609	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2943671	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2943675	0.85[ASN][1000 genomes]
rs2943676	0.85[ASN][1000 genomes]
rs2943677	0.85[ASN][1000 genomes]
rs2943678	0.89[ASN][1000 genomes]
rs2945143	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945145	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945146	0.95[ASN][1000 genomes]
rs2945147	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945148	0.95[ASN][1000 genomes]
rs2945150	0.88[ASN][1000 genomes]
rs2945152	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs2945153	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2945155	0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs2945158	0.83[ASN][1000 genomes]
rs2945160	0.85[ASN][1000 genomes]
rs2994435	0.87[EUR][1000 genomes]
rs2994934	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994935	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2994937	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994938	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2994940	0.95[ASN][1000 genomes]
rs2994946	0.85[ASN][1000 genomes]
rs2994948	0.81[CEU][hapmap]
rs2994953	0.93[CHB][hapmap];0.84[ASN][1000 genomes]
rs41299545	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6692765	0.84[CHB][hapmap]
rs7517756	0.83[EUR][1000 genomes]
rs880412	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85065600-85068800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:85065600-85069600	Weak transcription	Left Ventricle	heart
4	chr1:85065800-85069000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:85065800-85069000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:85066000-85068800	Weak transcription	HMEC	breast
7	chr1:85066000-85068800	Weak transcription	NHEK	skin
8	chr1:85066000-85069000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:85066000-85069000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:85066200-85068600	Weak transcription	HSMMtube	muscle
11	chr1:85066200-85069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:85066400-85068400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:85066400-85068400	Weak transcription	Hela-S3	cervix
14	chr1:85066400-85068600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:85066400-85068600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:85066400-85069000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:85066600-85068400	Weak transcription	NH-A	brain
18	chr1:85066600-85068600	Weak transcription	HSMM	muscle
19	chr1:85066600-85069000	Weak transcription	NHLF	lung
20	chr1:85066800-85068400	Weak transcription	Osteobl	bone
21	chr1:85067000-85068600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:85067200-85068600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:85067600-85069000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:85067600-85069400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:85068000-85068400	Weak transcription	NHDF-Ad	bronchial
26	chr1:85068000-85068800	Enhancers	Aorta	Aorta
27	chr1:85068000-85069000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:85068000-85069200	Enhancers	Rectal Smooth Muscle	rectum
29	chr1:85068000-85069200	Enhancers	HUVEC	blood vessel
30	chr1:85068000-85069400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:85068000-85069800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:85068200-85068400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:85068200-85068400	Enhancers	Fetal Heart	heart
34	chr1:85068200-85069000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:85068200-85069000	Enhancers	Stomach Smooth Muscle	stomach

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