Variant report

Variant	rs10930565
Chromosome Location	chr2:173454235-173454236
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	chr2:173453180..173455030-chr2:173476023..173478835,2	MCF-7	breast:
2	chr2:173447369..173449263-chr2:173452626..173454447,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10048692	0.82[EUR][1000 genomes]
rs10048707	0.82[EUR][1000 genomes]
rs10048825	0.82[EUR][1000 genomes]
rs1010752	0.81[ASN][1000 genomes]
rs10181851	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10186869	0.84[EUR][1000 genomes]
rs10199472	0.84[EUR][1000 genomes]
rs10208151	0.84[EUR][1000 genomes]
rs10427189	0.81[EUR][1000 genomes]
rs10427315	0.81[EUR][1000 genomes]
rs1075638	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10930561	0.81[ASN][1000 genomes]
rs10930562	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10930563	0.83[ASN][1000 genomes]
rs1097478	0.83[ASN][1000 genomes]
rs1133602	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11887454	0.84[EUR][1000 genomes]
rs11890159	0.84[EUR][1000 genomes]
rs11896032	0.81[EUR][1000 genomes]
rs11896178	0.81[EUR][1000 genomes]
rs11897165	0.84[EUR][1000 genomes]
rs11897495	0.83[EUR][1000 genomes]
rs11898890	0.81[EUR][1000 genomes]
rs11901110	0.84[EUR][1000 genomes]
rs11901586	0.81[EUR][1000 genomes]
rs11902810	0.83[EUR][1000 genomes]
rs11904158	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11904366	0.83[EUR][1000 genomes]
rs12465704	0.87[EUR][1000 genomes]
rs12476204	0.93[ASN][1000 genomes]
rs12693007	0.82[EUR][1000 genomes]
rs12693008	0.89[ASN][1000 genomes]
rs12990751	0.83[EUR][1000 genomes]
rs13007707	0.84[EUR][1000 genomes]
rs13008835	0.84[EUR][1000 genomes]
rs13009291	0.82[EUR][1000 genomes]
rs13010205	0.81[EUR][1000 genomes]
rs13015260	0.93[ASN][1000 genomes]
rs13019331	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024563	0.92[ASN][1000 genomes]
rs13032610	0.82[EUR][1000 genomes]
rs13385403	0.85[EUR][1000 genomes]
rs13392808	0.84[EUR][1000 genomes]
rs13401676	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13401980	0.84[EUR][1000 genomes]
rs13415174	0.81[EUR][1000 genomes]
rs13417334	0.84[EUR][1000 genomes]
rs1530864	0.87[ASN][1000 genomes]
rs1530865	0.87[ASN][1000 genomes]
rs1531150	0.85[ASN][1000 genomes]
rs16860693	0.87[ASN][1000 genomes]
rs16860696	0.85[EUR][1000 genomes]
rs16860697	0.85[EUR][1000 genomes]
rs16860737	0.93[ASN][1000 genomes]
rs16860741	0.93[ASN][1000 genomes]
rs17702263	0.84[EUR][1000 genomes]
rs1868901	0.92[ASN][1000 genomes]
rs1869923	0.90[ASN][1000 genomes]
rs1982410	0.81[EUR][1000 genomes]
rs2290564	0.85[EUR][1000 genomes]
rs2599260	0.90[ASN][1000 genomes]
rs2599261	0.90[ASN][1000 genomes]
rs2599262	0.90[ASN][1000 genomes]
rs2599263	0.90[ASN][1000 genomes]
rs2599264	0.90[ASN][1000 genomes]
rs2599265	0.90[ASN][1000 genomes]
rs2599266	0.90[ASN][1000 genomes]
rs2606062	0.90[ASN][1000 genomes]
rs2606063	0.90[ASN][1000 genomes]
rs2606064	0.89[ASN][1000 genomes]
rs2606065	0.90[ASN][1000 genomes]
rs2606066	0.90[ASN][1000 genomes]
rs2606067	0.90[ASN][1000 genomes]
rs2606070	0.90[ASN][1000 genomes]
rs34051646	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139806	0.82[EUR][1000 genomes]
rs34707897	0.84[EUR][1000 genomes]
rs34888332	0.84[EUR][1000 genomes]
rs35809888	0.84[EUR][1000 genomes]
rs35880823	0.84[EUR][1000 genomes]
rs35892983	0.91[ASN][1000 genomes]
rs36118221	0.84[EUR][1000 genomes]
rs3765065	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769321	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61505737	0.87[ASN][1000 genomes]
rs62167835	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62169270	0.84[EUR][1000 genomes]
rs66460331	0.81[EUR][1000 genomes]
rs6710129	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6723872	0.85[EUR][1000 genomes]
rs6731354	0.82[ASN][1000 genomes]
rs6733679	0.90[ASN][1000 genomes]
rs6738196	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6752257	0.85[EUR][1000 genomes]
rs6752386	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs70937083	0.87[ASN][1000 genomes]
rs70937084	0.87[ASN][1000 genomes]
rs7584769	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8179584	0.81[ASN][1000 genomes]
rs836590	0.90[ASN][1000 genomes]
rs836608	0.84[ASN][1000 genomes]
rs836614	0.84[ASN][1000 genomes]
rs836616	0.84[ASN][1000 genomes]
rs836617	0.84[ASN][1000 genomes]
rs836629	0.90[ASN][1000 genomes]
rs836630	0.90[ASN][1000 genomes]
rs836631	0.90[ASN][1000 genomes]
rs836634	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv3035	chr2:173419058-173463901	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv875415	chr2:173444462-173501069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875416	chr2:173444462-173504674	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
2	chr2:173426200-173460600	Weak transcription	HSMMtube	muscle
3	chr2:173430600-173461600	Weak transcription	Right Ventricle	heart
4	chr2:173431400-173480600	Weak transcription	Gastric	stomach
5	chr2:173432000-173462400	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:173439800-173458000	Weak transcription	NHDF-Ad	bronchial
7	chr2:173440200-173458200	Weak transcription	Osteobl	bone
8	chr2:173440200-173467600	Weak transcription	NH-A	brain
9	chr2:173443200-173454400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:173443200-173455200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:173443200-173472200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:173443800-173463200	Weak transcription	A549	lung
13	chr2:173444000-173456200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:173444000-173464000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:173444200-173455600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:173444200-173470400	Weak transcription	Psoas Muscle	Psoas
17	chr2:173444400-173480200	Strong transcription	HepG2	liver
18	chr2:173444600-173465400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:173445000-173455400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:173445200-173463200	Weak transcription	Fetal Brain Female	brain
21	chr2:173445400-173461000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:173445400-173462600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:173445400-173471000	Weak transcription	Brain Substantia Nigra	brain
24	chr2:173446000-173454400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:173446400-173460400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:173447800-173460200	Weak transcription	HUVEC	blood vessel
27	chr2:173448000-173463400	Weak transcription	Stomach Mucosa	stomach
28	chr2:173448200-173459000	Weak transcription	Brain Germinal Matrix	brain
29	chr2:173448800-173455800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:173449400-173454600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:173449400-173454600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:173449400-173455400	Strong transcription	Fetal Thymus	thymus
33	chr2:173449400-173456200	Strong transcription	Fetal Intestine Small	intestine
34	chr2:173449400-173456400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:173449400-173460400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:173449400-173462400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:173449600-173455200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:173449600-173455400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:173449600-173456600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:173449800-173455200	Strong transcription	HSMM	muscle
41	chr2:173449800-173455800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:173449800-173455800	Strong transcription	Fetal Intestine Large	intestine
43	chr2:173449800-173455800	Strong transcription	Fetal Stomach	stomach
44	chr2:173449800-173462800	Strong transcription	Primary B cells from cord blood	blood
45	chr2:173450200-173455200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:173450400-173454600	Strong transcription	NHLF	lung
47	chr2:173450400-173456600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:173450600-173454400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:173450600-173455000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:173450800-173455000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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