Variant report

Variant	rs2018424
Chromosome Location	chr12:46694657-46694658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46692366..46695241-chr12:46695544..46697127,2	K562	blood:
2	chr12:46692195..46695019-chr12:46696721..46698936,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10467213	0.87[EUR][1000 genomes]
rs1060735	0.85[EUR][1000 genomes]
rs1079780	0.81[EUR][1000 genomes]
rs10880947	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10880953	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10880959	0.80[EUR][1000 genomes]
rs11183420	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11183441	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11504511	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12298619	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12302984	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12310125	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12311507	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12317787	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580583	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12816358	0.81[EUR][1000 genomes]
rs12816413	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1471223	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1492892	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1492894	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1586905	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2045556	0.82[AMR][1000 genomes]
rs2087834	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2169030	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2172398	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242355	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2279560	0.85[EUR][1000 genomes]
rs2307061	0.80[EUR][1000 genomes]
rs2408496	0.81[EUR][1000 genomes]
rs2408504	0.88[EUR][1000 genomes]
rs2408505	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2408506	0.85[EUR][1000 genomes]
rs2408508	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34119192	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35123676	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35497251	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782904	0.81[EUR][1000 genomes]
rs3847985	0.81[JPT][hapmap]
rs4238102	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4438106	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4547171	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4586238	0.87[EUR][1000 genomes]
rs4768109	0.81[JPT][hapmap]
rs4768110	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768111	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768113	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768115	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768116	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768692	0.81[JPT][hapmap]
rs4768694	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768695	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768696	0.86[EUR][1000 genomes]
rs4768698	0.81[EUR][1000 genomes]
rs59919892	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582625	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7132228	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7134855	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7297536	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7310869	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7314069	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7315493	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7316127	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7316773	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953659	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7958774	0.87[EUR][1000 genomes]
rs7960147	0.80[EUR][1000 genomes]
rs7965629	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7966288	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7967669	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968173	0.80[EUR][1000 genomes]
rs7968283	0.80[EUR][1000 genomes]
rs7970911	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7974529	0.81[EUR][1000 genomes]
rs7976362	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7979514	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7980775	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs898242	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs956910	0.81[EUR][1000 genomes]
rs9669051	0.81[EUR][1000 genomes]
rs9669381	0.80[EUR][1000 genomes]
rs9795971	0.85[EUR][1000 genomes];0.81[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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46693000-46695200	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:46693200-46694800	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:46693400-46694800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:46693400-46695400	Enhancers	Primary B cells from cord blood	blood
5	chr12:46693600-46694800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:46693600-46694800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:46693600-46694800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:46693600-46695400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:46693600-46695800	Enhancers	HSMM	muscle
10	chr12:46693600-46696000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:46693600-46698000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:46693800-46694800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:46693800-46694800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:46693800-46694800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:46693800-46695000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:46693800-46698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:46694400-46695000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:46694400-46695000	Enhancers	Spleen	Spleen
19	chr12:46694400-46695200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:46694400-46695200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:46694400-46695200	Enhancers	Fetal Muscle Trunk	muscle
22	chr12:46694400-46695200	Enhancers	Fetal Thymus	thymus
23	chr12:46694400-46696000	Enhancers	Fetal Muscle Leg	muscle
24	chr12:46694600-46695000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:46694600-46695000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:46694600-46695000	Enhancers	Brain Hippocampus Middle	brain
27	chr12:46694600-46695000	Enhancers	Right Ventricle	heart
28	chr12:46694600-46695000	Enhancers	Thymus	Thymus
29	chr12:46694600-46695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:46694600-46695400	Enhancers	Fetal Stomach	stomach
31	chr12:46694600-46695800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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