Variant report

Variant	rs275345
Chromosome Location	chr6:150960610-150960611
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150956857..150958367-chr6:150960142..150962219,2	K562	blood:
2	chr6:150952990..150955187-chr6:150959095..150960724,2	MCF-7	breast:
3	chr6:150960489..150962367-chr6:150966319..150968724,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12198116	0.92[JPT][hapmap]
rs1388912	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1565655	0.85[CHB][hapmap]
rs275343	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs275344	1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs275349	1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs6906716	0.83[JPT][hapmap]
rs6936123	0.92[JPT][hapmap]
rs7769605	1.00[CEU][hapmap];0.86[GIH][hapmap];0.93[TSI][hapmap];0.99[EUR][1000 genomes]
rs7775858	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs9372081	0.98[EUR][1000 genomes]
rs9372083	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs9384570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9384571	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs981392	0.92[JPT][hapmap]

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	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv886774	chr6:150931131-150983318	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs275345	IYD	cis	cerebellum	SCAN
rs275345	LATS1	cis	cerebellum	SCAN
rs275345	DYM	trans	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150941800-150962600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:150953800-150962200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:150953800-150962400	Weak transcription	Ovary	ovary
4	chr6:150954000-150961800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:150954600-150962600	Weak transcription	Adipose Nuclei	Adipose
6	chr6:150954600-150962600	Weak transcription	Brain Anterior Caudate	brain
7	chr6:150954800-150961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:150955000-150960800	Weak transcription	Lung	lung
9	chr6:150955000-150962400	Weak transcription	Right Atrium	heart
10	chr6:150955200-150961000	Weak transcription	Spleen	Spleen
11	chr6:150955200-150963400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:150955600-150963600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:150955800-150972400	Weak transcription	Fetal Stomach	stomach
14	chr6:150956000-150961400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:150956400-150961800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:150956400-150962000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:150956400-150962600	Weak transcription	HMEC	breast
18	chr6:150956600-150961600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:150956800-150961800	Weak transcription	Fetal Lung	lung
20	chr6:150956800-150962400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:150957600-150961600	Weak transcription	Fetal Heart	heart
22	chr6:150957600-150961800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:150957600-150962400	Weak transcription	HUVEC	blood vessel
24	chr6:150957800-150960800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:150958200-150961400	Weak transcription	Fetal Intestine Large	intestine
26	chr6:150958200-150961600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:150958200-150961600	Weak transcription	Fetal Intestine Small	intestine
28	chr6:150958200-150961800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:150958200-150971200	Weak transcription	Left Ventricle	heart
30	chr6:150958400-150961600	Weak transcription	Brain Substantia Nigra	brain
31	chr6:150959000-150962600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:150959400-150960800	Flanking Active TSS	GM12878-XiMat	blood
33	chr6:150959400-150962200	Genic enhancers	Primary B cells from cord blood	blood
34	chr6:150959400-150962200	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr6:150959800-150960800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:150959800-150960800	Weak transcription	Liver	Liver
37	chr6:150959800-150960800	Weak transcription	Thymus	Thymus
38	chr6:150959800-150961400	Weak transcription	Fetal Kidney	kidney
39	chr6:150959800-150963800	Weak transcription	Gastric	stomach
40	chr6:150959800-150965200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:150959800-150987400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:150960000-150963600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:150960200-150962600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:150960400-150960800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:150960400-150980600	Weak transcription	Stomach Mucosa	stomach
46	chr6:150960600-150962600	Genic enhancers	Fetal Thymus	thymus

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