Variant report

Variant	rs10164572
Chromosome Location	chr2:101027725-101027726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101022665..101026054-chr2:101026732..101029227,3	K562	blood:
2	chr2:101021035..101023406-chr2:101025685..101028332,2	MCF-7	breast:
3	chr2:100907851..100910506-chr2:101025959..101028918,2	MCF-7	breast:
4	chr2:100998508..101000560-chr2:101026815..101028863,2	K562	blood:
5	chr2:100906911..100909075-chr2:101026496..101029080,2	MCF-7	breast:
6	chr2:101025440..101029352-chr2:101031639..101035413,6	K562	blood:
7	chr2:101026309..101028230-chr2:101028267..101030019,2	K562	blood:

Variant related genes	Relation type
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10187094	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10188619	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1107428	0.84[AFR][1000 genomes]
rs11123831	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12329351	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13425645	1.00[AMR][1000 genomes]
rs28549897	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4597550	0.84[AFR][1000 genomes]
rs6723222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728399	1.00[AMR][1000 genomes]
rs6733677	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6759686	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7558887	1.00[AMR][1000 genomes]
rs7563227	0.80[AFR][1000 genomes]
rs7564318	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808480	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
2	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
4	chr2:101007200-101032000	Weak transcription	NHDF-Ad	bronchial
5	chr2:101007600-101030600	Weak transcription	NH-A	brain
6	chr2:101008000-101033000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:101010200-101032800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:101013200-101030400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:101013200-101033000	Weak transcription	Fetal Intestine Large	intestine
10	chr2:101014400-101033200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:101014800-101032400	Weak transcription	Hela-S3	cervix
12	chr2:101015600-101033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:101016400-101028000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:101016400-101032600	Weak transcription	HSMM	muscle
15	chr2:101017000-101032800	Weak transcription	Osteobl	bone
16	chr2:101018400-101033000	Weak transcription	Primary B cells from cord blood	blood
17	chr2:101019000-101032800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:101021000-101033200	Weak transcription	Colonic Mucosa	Colon
19	chr2:101021800-101028200	Weak transcription	K562	blood
20	chr2:101022200-101033000	Weak transcription	HSMMtube	muscle
21	chr2:101022600-101032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:101022800-101030200	Weak transcription	Thymus	Thymus
23	chr2:101022800-101030400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:101022800-101030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:101022800-101032200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:101022800-101032400	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:101022800-101033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:101022800-101033000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:101023200-101029400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:101023200-101030400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:101023200-101032800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:101023200-101033000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:101023200-101033000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:101023200-101033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:101023200-101033000	Weak transcription	Fetal Thymus	thymus
36	chr2:101023400-101032600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:101023400-101033000	Weak transcription	Fetal Kidney	kidney
38	chr2:101023600-101031800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:101023600-101032800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:101023800-101027800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:101023800-101029600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:101023800-101030200	Weak transcription	GM12878-XiMat	blood
43	chr2:101023800-101032200	Weak transcription	Ovary	ovary
44	chr2:101023800-101032800	Weak transcription	Psoas Muscle	Psoas
45	chr2:101024000-101028200	Weak transcription	HepG2	liver
46	chr2:101024000-101029000	Weak transcription	Brain Angular Gyrus	brain
47	chr2:101024000-101031400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:101024000-101033000	Weak transcription	Fetal Intestine Small	intestine
49	chr2:101024200-101028000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:101024200-101028000	Weak transcription	Brain Substantia Nigra	brain

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