Variant report

Variant	rs240765
Chromosome Location	chr6:100953883-100953884
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	chr6:100935491..100937545-chr6:100952040..100953953,2	K562	blood:
2	chr6:100950233..100952061-chr6:100952645..100955595,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRDM13-10	chr6:100951626-100955498	NONHSAT114157

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1006398	0.91[EUR][1000 genomes]
rs1006399	0.89[EUR][1000 genomes]
rs12206564	0.81[EUR][1000 genomes]
rs240762	0.84[EUR][1000 genomes]
rs240766	0.96[EUR][1000 genomes]
rs240770	0.84[EUR][1000 genomes]
rs240771	0.83[EUR][1000 genomes]
rs240772	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs240773	0.84[EUR][1000 genomes]
rs240774	0.96[EUR][1000 genomes]
rs240776	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs240780	0.84[EUR][1000 genomes]
rs240783	0.83[EUR][1000 genomes]
rs240784	0.96[EUR][1000 genomes]
rs240788	0.84[EUR][1000 genomes]
rs6910738	0.94[EUR][1000 genomes]
rs7452753	0.82[EUR][1000 genomes]
rs9485165	0.84[EUR][1000 genomes]
rs997229	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1028122	chr6:100774245-100964347	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1023710	chr6:100810738-101001115	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv538388	chr6:100810738-101001115	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv528283	chr6:100953883-100954036	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs240765	ASCC3	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100949800-100966400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:100950200-100959000	Weak transcription	Pancreas	Pancrea
3	chr6:100950400-100954000	Weak transcription	Primary T cells from cord blood	blood
4	chr6:100950400-100955000	Enhancers	Osteobl	bone
5	chr6:100950400-100959200	Weak transcription	Gastric	stomach
6	chr6:100951200-100959200	Weak transcription	Left Ventricle	heart
7	chr6:100951400-100959400	Weak transcription	HepG2	liver
8	chr6:100951400-100960000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:100951600-100957000	Weak transcription	Small Intestine	intestine
10	chr6:100951600-100969800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:100952000-100955000	Enhancers	HSMMtube	muscle
12	chr6:100952000-100956400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:100952200-100955000	Enhancers	NH-A	brain
14	chr6:100952200-100955200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:100952200-100955400	Weak transcription	Liver	Liver
16	chr6:100952200-100956000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:100952200-100957000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:100952400-100954200	Weak transcription	Dnd41	blood
19	chr6:100952400-100957000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:100952400-100959800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:100952600-100955000	Enhancers	HUVEC	blood vessel
22	chr6:100952600-100955600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:100952600-100956800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:100952600-100957000	Weak transcription	Fetal Lung	lung
25	chr6:100952600-100967600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:100952800-100955600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:100952800-100955600	Weak transcription	Primary B cells from cord blood	blood
28	chr6:100952800-100959000	Weak transcription	Fetal Intestine Small	intestine
29	chr6:100952800-100997400	Weak transcription	A549	lung
30	chr6:100953000-100955000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:100953000-100955200	Weak transcription	Adipose Nuclei	Adipose
32	chr6:100953000-100955400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:100953000-100956800	Weak transcription	Ovary	ovary
34	chr6:100953000-100957000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:100953000-100959000	Weak transcription	Fetal Stomach	stomach
36	chr6:100953000-100959200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:100953000-100968400	Weak transcription	Fetal Kidney	kidney
38	chr6:100953200-100955400	Genic enhancers	HSMM	muscle
39	chr6:100953200-100959400	Weak transcription	NHEK	skin
40	chr6:100953200-100959600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:100953200-100960000	Weak transcription	GM12878-XiMat	blood
42	chr6:100953200-100966200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:100953400-100954000	Strong transcription	Fetal Muscle Leg	muscle
44	chr6:100953400-100954200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:100953400-100954600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:100953400-100954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:100953400-100955000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr6:100953400-100956600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:100953400-100956800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:100953400-100956800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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