Variant report

Variant	rs6919966
Chromosome Location	chr6:128306769-128306770
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	chr6:128306119..128308919-chr6:128317530..128320441,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12055782	0.81[CHD][hapmap]
rs1342646	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2024557	0.80[CEU][hapmap]
rs3903662	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3928896	0.96[ASN][1000 genomes]
rs4113587	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4113588	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563733	0.80[CEU][hapmap]
rs6899650	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs717851	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7742212	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7744108	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7758792	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375542	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs9375543	0.82[CHD][hapmap]
rs9402011	0.80[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604642	chr6:128278798-128351143	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv7967	chr6:128304971-128315423	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6919966	HEY2	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128285600-128307400	Weak transcription	Aorta	Aorta
2	chr6:128287200-128309000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:128287600-128308600	Weak transcription	Esophagus	oesophagus
4	chr6:128288000-128307600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:128288600-128306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:128288600-128321800	Weak transcription	Small Intestine	intestine
7	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
8	chr6:128290000-128308200	Strong transcription	HepG2	liver
9	chr6:128292400-128307600	Strong transcription	Liver	Liver
10	chr6:128292600-128307000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr6:128293600-128374400	Weak transcription	Pancreas	Pancrea
12	chr6:128293800-128307800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:128294400-128330600	Weak transcription	NHDF-Ad	bronchial
14	chr6:128296000-128307000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:128296800-128307200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:128296800-128307600	Strong transcription	Fetal Intestine Large	intestine
17	chr6:128297200-128307200	Strong transcription	HSMMtube	muscle
18	chr6:128297400-128334000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:128297800-128308200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:128297800-128312600	Weak transcription	Colonic Mucosa	Colon
21	chr6:128298000-128307400	Weak transcription	Fetal Brain Female	brain
22	chr6:128298000-128352600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:128298200-128307200	Weak transcription	Fetal Kidney	kidney
24	chr6:128298200-128313800	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:128298200-128334600	Weak transcription	Fetal Heart	heart
26	chr6:128299000-128317200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:128300000-128307200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:128300000-128317000	Weak transcription	Primary T cells from cord blood	blood
29	chr6:128300400-128312800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr6:128300600-128308600	Strong transcription	HSMM	muscle
31	chr6:128300800-128313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:128300800-128326400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:128301000-128325200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:128302600-128306800	Weak transcription	Brain Germinal Matrix	brain
35	chr6:128302600-128308200	Strong transcription	NH-A	brain
36	chr6:128302600-128319600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:128302600-128331400	Weak transcription	Gastric	stomach
38	chr6:128302800-128306800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:128302800-128307400	Weak transcription	Thymus	Thymus
40	chr6:128302800-128308400	Weak transcription	Right Ventricle	heart
41	chr6:128302800-128309600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:128302800-128313400	Weak transcription	Brain Angular Gyrus	brain
43	chr6:128302800-128321600	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:128302800-128325400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:128302800-128327800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:128302800-128343800	Weak transcription	Ovary	ovary
47	chr6:128303000-128306800	Weak transcription	NHEK	skin
48	chr6:128303000-128312600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:128303000-128321800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:128303400-128309800	Weak transcription	Fetal Muscle Leg	muscle

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