Variant report

Variant	rs10018930
Chromosome Location	chr4:111029635-111029636
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111029324..111031143-chr4:111032010..111034805,2	K562	blood:
2	chr4:111027821..111029786-chr4:111115115..111116901,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10011926	0.83[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10012789	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10012828	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10032613	0.83[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10033229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10034148	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1034668	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11937187	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs13435887	0.87[ASN][1000 genomes]
rs1468219	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1482469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1964208	0.82[AFR][1000 genomes]
rs1964209	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1964210	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1964211	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2057695	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2106995	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28730909	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3733623	0.82[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4698810	0.83[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6850449	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs718815	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs718816	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7655273	0.80[ASN][1000 genomes]
rs7668562	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7668795	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7669237	0.83[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7674189	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9992608	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111011000-111040200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:111013000-111040400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:111013600-111040400	Weak transcription	Fetal Kidney	kidney
4	chr4:111023800-111037000	Weak transcription	Primary T cells from cord blood	blood
5	chr4:111024200-111049800	Weak transcription	Fetal Stomach	stomach
6	chr4:111026000-111061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:111026400-111037400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:111026400-111041200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:111026400-111046000	Weak transcription	Left Ventricle	heart
10	chr4:111026400-111049200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:111026600-111034000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:111026600-111040000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:111026600-111040000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:111026600-111040000	Weak transcription	Dnd41	blood
15	chr4:111027200-111030200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:111027400-111031400	Enhancers	Osteobl	bone
17	chr4:111027600-111029800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:111027600-111029800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:111027600-111030000	Enhancers	NHEK	skin
20	chr4:111027600-111030200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:111027600-111031200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:111027600-111031400	Enhancers	NHDF-Ad	bronchial
23	chr4:111027800-111029800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:111027800-111029800	Enhancers	HSMM	muscle
25	chr4:111027800-111031000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:111027800-111032200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr4:111028000-111029800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:111028000-111030000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr4:111028000-111040000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:111028000-111047600	Weak transcription	Gastric	stomach
31	chr4:111028400-111031200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:111028400-111031400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:111028400-111032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:111028400-111035000	Weak transcription	Brain Germinal Matrix	brain
35	chr4:111028600-111030000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:111028600-111030000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:111028600-111030800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr4:111028600-111030800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:111028600-111030800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:111028600-111031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:111028600-111032200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:111028600-111032800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:111028600-111037200	Weak transcription	Fetal Intestine Small	intestine
44	chr4:111028600-111040400	Weak transcription	HMEC	breast
45	chr4:111028600-111040600	Weak transcription	NHLF	lung
46	chr4:111028600-111040800	Weak transcription	NH-A	brain
47	chr4:111028600-111041200	Weak transcription	Small Intestine	intestine
48	chr4:111028600-111054000	Weak transcription	HepG2	liver
49	chr4:111028800-111030000	Enhancers	A549	lung
50	chr4:111028800-111037400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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