Variant report

Variant	rs10399867
Chromosome Location	chr1:161839765-161839766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161839566..161842441-chr1:161842909..161844787,2	K562	blood:
2	chr1:161832356..161834052-chr1:161839680..161841205,2	MCF-7	breast:
3	chr1:161839566..161842330-chr1:161842859..161844409,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10494357	0.83[ASN][1000 genomes]
rs10800032	0.84[ASN][1000 genomes]
rs10800079	0.84[ASN][1000 genomes]
rs10917968	0.80[ASN][1000 genomes]
rs10918029	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12042663	0.95[ASN][1000 genomes]
rs12045320	0.85[ASN][1000 genomes]
rs12076482	0.82[ASN][1000 genomes]
rs12078104	0.80[ASN][1000 genomes]
rs12079579	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12081397	0.84[ASN][1000 genomes]
rs12086247	0.80[ASN][1000 genomes]
rs12097712	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12691498	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1394066	0.85[ASN][1000 genomes]
rs1503815	0.87[ASN][1000 genomes]
rs1875762	0.81[ASN][1000 genomes]
rs3767636	0.83[ASN][1000 genomes]
rs3767637	0.83[ASN][1000 genomes]
rs60578284	0.93[ASN][1000 genomes]
rs6427632	0.85[ASN][1000 genomes]
rs6660014	0.83[ASN][1000 genomes]
rs6672073	0.81[ASN][1000 genomes]
rs6698956	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7355188	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7516955	0.84[ASN][1000 genomes]
rs7518743	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1014340	chr1:161822791-161852384	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
2	chr1:161791800-161842000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:161795200-161860200	Weak transcription	Lung	lung
4	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
5	chr1:161805800-161846200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:161808400-161863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:161808600-161840200	Weak transcription	Right Ventricle	heart
8	chr1:161808800-161858800	Weak transcription	Spleen	Spleen
9	chr1:161819800-161852600	Weak transcription	NHDF-Ad	bronchial
10	chr1:161820600-161849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:161823600-161842200	Weak transcription	Osteobl	bone
12	chr1:161823600-161858800	Weak transcription	Thymus	Thymus
13	chr1:161823800-161857000	Weak transcription	Ovary	ovary
14	chr1:161824000-161840400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:161824000-161842400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:161824000-161854400	Weak transcription	NH-A	brain
17	chr1:161824000-161859000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:161824200-161841800	Weak transcription	NHEK	skin
19	chr1:161824200-161842200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:161824200-161854400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:161824400-161853200	Weak transcription	HSMM	muscle
23	chr1:161824400-161882000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:161824600-161853400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:161824600-161858600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:161825200-161840600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:161825200-161855000	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:161825200-161856400	Weak transcription	K562	blood
29	chr1:161825600-161863200	Weak transcription	Fetal Heart	heart
30	chr1:161825800-161859200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:161826200-161858600	Weak transcription	Psoas Muscle	Psoas
32	chr1:161826200-161860400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:161830400-161844200	Weak transcription	Fetal Thymus	thymus
34	chr1:161831000-161855000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:161831800-161840800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:161831800-161856400	Weak transcription	Left Ventricle	heart
37	chr1:161832600-161841400	Weak transcription	Hela-S3	cervix
38	chr1:161833000-161855600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:161833600-161840200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:161833800-161842400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:161834000-161841400	Weak transcription	HUVEC	blood vessel
42	chr1:161834200-161853200	Weak transcription	NHLF	lung
43	chr1:161834200-161859000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:161834400-161841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:161834400-161852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:161834400-161863200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:161834600-161857400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:161834600-161858800	Weak transcription	GM12878-XiMat	blood
49	chr1:161834600-161859000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:161834600-161859000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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