Variant report

Variant	rs59695906
Chromosome Location	chr12:39833226-39833227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39815681..39818065-chr12:39831801..39835369,3	K562	blood:
2	chr12:39785456..39789344-chr12:39830749..39834519,3	K562	blood:
3	chr12:39806434..39808790-chr12:39833185..39835249,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10876876	0.80[ASN][1000 genomes]
rs10876972	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876989	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11171674	0.81[AMR][1000 genomes]
rs11171676	0.81[AMR][1000 genomes]
rs11171720	0.81[AMR][1000 genomes]
rs11171730	0.81[AMR][1000 genomes]
rs11171789	0.81[ASN][1000 genomes]
rs11171891	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11171901	0.82[ASN][1000 genomes]
rs11171938	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11172081	0.82[ASN][1000 genomes]
rs11172108	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11172120	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172174	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11172183	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11172235	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11172264	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172282	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11172319	0.85[EUR][1000 genomes]
rs11172320	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11172541	0.90[EUR][1000 genomes]
rs11172650	0.82[EUR][1000 genomes]
rs12230604	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17127019	0.81[AMR][1000 genomes]
rs1828653	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3736466	0.82[ASN][1000 genomes]
rs4378431	0.88[EUR][1000 genomes]
rs4466883	0.83[EUR][1000 genomes]
rs4492858	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4564382	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57756176	0.81[AMR][1000 genomes]
rs57833783	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58240943	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58613501	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60263267	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60900225	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6581188	0.89[EUR][1000 genomes]
rs7137143	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73094410	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7962283	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7965222	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7966540	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7974928	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7979444	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs958914	0.81[AMR][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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39806600-39834200	Weak transcription	Hela-S3	cervix
2	chr12:39813600-39833400	Weak transcription	Brain Germinal Matrix	brain
3	chr12:39814400-39833800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:39816000-39834000	Weak transcription	Left Ventricle	heart
5	chr12:39821400-39835600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:39825200-39835600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:39825400-39834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:39829600-39835800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:39829800-39834000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:39829800-39834000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:39829800-39834600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:39830000-39835400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:39830600-39833800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:39830600-39834800	Enhancers	Fetal Heart	heart
15	chr12:39831000-39833800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:39831000-39833800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:39831200-39833600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:39831400-39833600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr12:39831600-39834000	Weak transcription	NHEK	skin
20	chr12:39831600-39834400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:39831800-39833800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:39832000-39833600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:39832200-39833600	Enhancers	Fetal Brain Female	brain
24	chr12:39832200-39834000	Enhancers	A549	lung
25	chr12:39832200-39835600	Enhancers	Liver	Liver
26	chr12:39832400-39834000	Weak transcription	Right Atrium	heart
27	chr12:39832400-39834400	Weak transcription	Psoas Muscle	Psoas
28	chr12:39832400-39834400	Active TSS	GM12878-XiMat	blood
29	chr12:39832400-39834400	Enhancers	HepG2	liver
30	chr12:39832600-39834000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:39833000-39833800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:39833000-39834000	Weak transcription	K562	blood
33	chr12:39833000-39834600	Weak transcription	Brain Substantia Nigra	brain
34	chr12:39833000-39835200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:39833200-39833600	Weak transcription	Fetal Brain Male	brain
36	chr12:39833200-39833800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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