Variant report

Variant	rs10195817
Chromosome Location	chr2:20455246-20455247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20454777..20457234-chr2:20460432..20463259,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10153828	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10165087	0.81[EUR][1000 genomes]
rs10167509	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168575	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170538	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171025	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171861	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172088	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173098	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174768	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10176257	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10177428	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178561	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179429	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182156	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182228	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182834	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184976	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193751	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10194789	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10195153	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10197941	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198897	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204489	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207798	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208668	1.00[ASN][1000 genomes]
rs13390701	1.00[CEU][hapmap]
rs13391140	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13398963	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409830	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412971	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421653	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13425933	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs13426989	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429586	1.00[ASN][1000 genomes]
rs28732678	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55904622	1.00[ASN][1000 genomes]
rs57065686	1.00[ASN][1000 genomes]
rs57459161	1.00[ASN][1000 genomes]
rs58774661	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59901600	1.00[ASN][1000 genomes]
rs60984167	1.00[ASN][1000 genomes]
rs62111434	1.00[ASN][1000 genomes]
rs62111435	1.00[ASN][1000 genomes]
rs62111436	1.00[ASN][1000 genomes]
rs62111437	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62111439	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123441	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123443	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123444	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123445	0.81[EUR][1000 genomes]
rs62123446	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123448	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123450	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123453	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123454	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123455	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62123456	1.00[ASN][1000 genomes]
rs62123458	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124592	1.00[ASN][1000 genomes]
rs62124596	1.00[ASN][1000 genomes]
rs62124597	1.00[ASN][1000 genomes]
rs62124598	1.00[ASN][1000 genomes]
rs62124599	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124600	1.00[ASN][1000 genomes]
rs62124601	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124602	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124604	1.00[ASN][1000 genomes]
rs6715475	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744963	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214391	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214393	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216207	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216223	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216230	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216236	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218112	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218122	1.00[ASN][1000 genomes]
rs73218124	1.00[ASN][1000 genomes]
rs73218129	1.00[ASN][1000 genomes]
rs73218135	1.00[ASN][1000 genomes]
rs741189	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs7565347	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589484	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs759220	1.00[ASN][1000 genomes]
rs759221	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9653390	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9808229	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv524207	chr2:20448561-20503436	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:20442800-20474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:20443000-20456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:20444200-20457200	Strong transcription	A549	lung
5	chr2:20444400-20489000	Weak transcription	Stomach Mucosa	stomach
6	chr2:20445400-20457000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:20445400-20463600	Strong transcription	Fetal Thymus	thymus
8	chr2:20445400-20473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:20445600-20456600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:20445800-20456600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:20445800-20463600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:20445800-20465400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:20446000-20463400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:20446000-20464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:20446000-20464600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:20446200-20456000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr2:20446200-20456600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:20446200-20459400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:20446200-20463400	Strong transcription	Liver	Liver
20	chr2:20446200-20464600	Strong transcription	Placenta	Placenta
21	chr2:20446400-20456400	Strong transcription	NHDF-Ad	bronchial
22	chr2:20446400-20463400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:20446400-20463400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:20446400-20463800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:20446400-20473600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:20446600-20457400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:20446600-20460400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:20446600-20463600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:20446800-20456600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:20446800-20463600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:20446800-20463600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:20446800-20465400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:20447000-20455800	Strong transcription	Colonic Mucosa	Colon
34	chr2:20447000-20456000	Strong transcription	Adipose Nuclei	Adipose
35	chr2:20447000-20456000	Strong transcription	HUVEC	blood vessel
36	chr2:20447000-20456600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:20447000-20456600	Strong transcription	GM12878-XiMat	blood
38	chr2:20447000-20462400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:20447000-20463400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:20447000-20463600	Strong transcription	NH-A	brain
41	chr2:20447000-20463600	Strong transcription	Osteobl	bone
42	chr2:20447000-20464000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:20447000-20464600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:20447000-20465800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:20447000-20468600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:20447000-20470200	Strong transcription	Dnd41	blood
47	chr2:20447200-20456400	Strong transcription	Primary B cells from cord blood	blood
48	chr2:20447200-20456600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:20447200-20463200	Strong transcription	HSMM	muscle
50	chr2:20448000-20463800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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