Variant report

Variant	rs12216130
Chromosome Location	chr6:119315722-119315723
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	chr6:119314602..119316807-chr6:119322501..119324038,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1068588	0.80[EUR][1000 genomes]
rs12204084	0.82[EUR][1000 genomes]
rs12204825	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12211725	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12213597	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17506361	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1775617	0.81[EUR][1000 genomes]
rs589865	0.86[EUR][1000 genomes]
rs590004	0.80[EUR][1000 genomes]
rs610960	0.80[EUR][1000 genomes]
rs669978	0.80[EUR][1000 genomes]
rs7740819	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7750373	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7771525	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7775251	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs813233	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9374774	0.82[EUR][1000 genomes]
rs9387631	0.82[EUR][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	esv3340393	chr6:119311737-119316304	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
2	esv3442213	chr6:119311747-119316306	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119285800-119340000	Weak transcription	Fetal Brain Male	brain
2	chr6:119287200-119326600	Weak transcription	Fetal Brain Female	brain
3	chr6:119287400-119330000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:119292400-119344000	Weak transcription	Brain Germinal Matrix	brain
5	chr6:119293200-119345400	Weak transcription	Lung	lung
6	chr6:119294200-119330800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:119300600-119344000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:119300800-119319600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:119300800-119342600	Weak transcription	Brain Anterior Caudate	brain
10	chr6:119301000-119321800	Weak transcription	Placenta	Placenta
11	chr6:119301400-119319200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:119311400-119315800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:119313000-119329800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:119314200-119318600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:119314200-119318800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:119314400-119364400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:119315200-119325200	Weak transcription	Pancreas	Pancrea
18	chr6:119315400-119319400	Weak transcription	Fetal Intestine Small	intestine
19	chr6:119315400-119319600	Weak transcription	Fetal Intestine Large	intestine
20	chr6:119315400-119320800	Weak transcription	HepG2	liver
21	chr6:119315400-119329800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:119315400-119330800	Weak transcription	Brain Inferior Temporal Lobe	brain

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