Variant report

Variant	rs17729632
Chromosome Location	chr12:8987417-8987418
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	chr12:8973639..8975831-chr12:8984866..8987670,2	K562	blood:
2	chr12:8980443..8982182-chr12:8987390..8989439,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMKLB-5	chr12:8987258-8987531	NONHSAT026373

Variant related genes	Relation type
ENSG00000166535	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10734734	0.93[EUR][1000 genomes]
rs10743504	0.93[EUR][1000 genomes]
rs11047510	1.00[EUR][1000 genomes]
rs11047578	0.84[EUR][1000 genomes]
rs12296947	0.84[EUR][1000 genomes]
rs12823255	0.86[EUR][1000 genomes]
rs17802399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1894814	0.94[EUR][1000 genomes]
rs2377597	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2377598	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4883181	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs4883182	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4883183	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs4883184	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4883185	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4883186	0.94[EUR][1000 genomes]
rs4883187	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55906630	0.85[EUR][1000 genomes]
rs56230819	0.88[EUR][1000 genomes]
rs59908019	0.88[EUR][1000 genomes]
rs60175291	0.85[EUR][1000 genomes]
rs6487390	0.83[EUR][1000 genomes]
rs6487407	0.84[EUR][1000 genomes]
rs7136690	0.84[EUR][1000 genomes]
rs7300139	0.83[EUR][1000 genomes]
rs7301996	0.84[EUR][1000 genomes]
rs7302253	0.84[EUR][1000 genomes]
rs7304994	0.83[CEU][hapmap];0.93[EUR][1000 genomes]
rs7305259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7957179	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7970580	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7978604	0.84[EUR][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	nsv521922	chr12:8986379-8991970	Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8979000-8995400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:8982200-9022000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:8982600-8988000	Weak transcription	K562	blood
4	chr12:8983400-9017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:8983800-8999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:8985200-8987600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:8985400-8992400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:8985800-8988000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:8986200-8987800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:8986200-8987800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:8986200-8988000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:8986200-8988200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:8986400-8987600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:8986400-8987600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:8986400-8988200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:8986600-8987800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr12:8986600-8987800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:8986600-8988200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:8986800-8988200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:8987000-8987600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:8987000-8988200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:8987200-8987600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr12:8987200-8988200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:8987400-8989000	Strong transcription	Esophagus	oesophagus
25	chr12:8987400-8991800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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