Variant report

Variant	rs7826377
Chromosome Location	chr8:61782103-61782104
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	chr8:61779349..61781362-chr8:61781612..61783188,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD7-2	chr8:61781100-61783405	NONHSAT126850

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11986627	1.00[JPT][hapmap]
rs13256570	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13257536	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16926387	0.87[ASN][1000 genomes]
rs16926520	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2068096	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35951521	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3763592	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6984890	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7826289	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised 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	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7826377	RAVER2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61769600-61783000	Weak transcription	Small Intestine	intestine
2	chr8:61769600-61784000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:61769600-61785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:61769800-61788400	Weak transcription	Fetal Brain Female	brain
5	chr8:61774600-61784200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:61775200-61789000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:61775400-61790800	Weak transcription	Fetal Kidney	kidney
8	chr8:61776000-61784200	Weak transcription	NHEK	skin
9	chr8:61776600-61784200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:61777600-61784800	Weak transcription	K562	blood
11	chr8:61778000-61789600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:61778200-61784600	Weak transcription	Brain Germinal Matrix	brain
13	chr8:61778400-61782800	Weak transcription	Spleen	Spleen
14	chr8:61778400-61783600	Weak transcription	HUVEC	blood vessel
15	chr8:61778400-61783800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:61778400-61783800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:61778400-61784200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:61778400-61788600	Weak transcription	Pancreas	Pancrea
19	chr8:61778400-61789600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:61778600-61782400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:61778600-61783000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:61778600-61783800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:61778600-61788600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:61778600-61792800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:61778800-61784000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:61778800-61784200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:61778800-61788600	Weak transcription	Fetal Lung	lung
28	chr8:61778800-61789800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:61779000-61783800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:61779200-61783800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:61779200-61785800	Weak transcription	Fetal Stomach	stomach
32	chr8:61779400-61782200	Enhancers	Primary T cells from cord blood	blood
33	chr8:61779400-61784000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:61779400-61784400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:61779800-61784000	Weak transcription	HMEC	breast
36	chr8:61779800-61785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:61780000-61782200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:61780000-61787800	Weak transcription	Left Ventricle	heart
39	chr8:61780000-61788000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr8:61780000-61788600	Weak transcription	HSMMtube	muscle
41	chr8:61780200-61784000	Weak transcription	Brain Anterior Caudate	brain
42	chr8:61780200-61784200	Weak transcription	Brain Angular Gyrus	brain
43	chr8:61780200-61784600	Weak transcription	GM12878-XiMat	blood
44	chr8:61780200-61788600	Weak transcription	Esophagus	oesophagus
45	chr8:61780200-61788600	Weak transcription	Placenta	Placenta
46	chr8:61780400-61782400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:61780400-61782800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:61780400-61783400	Weak transcription	Colonic Mucosa	Colon
49	chr8:61780400-61783800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:61780400-61784200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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