Variant report

Variant	rs2021163
Chromosome Location	chr6:30038383-30038384
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30037349..30040198-chr6:30056751..30058986,2	MCF-7	breast:
2	chr6:30037077..30039641-chr6:30068261..30070312,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10947051	0.82[ASN][1000 genomes]
rs10947052	0.82[ASN][1000 genomes]
rs11753939	0.83[ASN][1000 genomes]
rs11758516	0.82[ASN][1000 genomes]
rs11965379	0.83[ASN][1000 genomes]
rs11965540	0.83[ASN][1000 genomes]
rs12663534	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17193886	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2285805	0.83[ASN][1000 genomes]
rs2394735	0.82[ASN][1000 genomes]
rs3188482	0.83[ASN][1000 genomes]
rs3807032	0.82[ASN][1000 genomes]
rs3807033	0.82[ASN][1000 genomes]
rs57518619	0.82[ASN][1000 genomes]
rs58099508	0.82[ASN][1000 genomes]
rs73424274	0.81[ASN][1000 genomes]
rs73728107	0.83[ASN][1000 genomes]

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	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv884049	chr6:30037353-30047403	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2021163	ZNRD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30035600-30041000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:30035800-30038800	Weak transcription	Right Atrium	heart
3	chr6:30036000-30038600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:30036000-30038600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:30036000-30038600	Weak transcription	NH-A	brain
6	chr6:30036200-30038400	Strong transcription	Fetal Intestine Large	intestine
7	chr6:30036200-30038600	Strong transcription	Thymus	Thymus
8	chr6:30036200-30038800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:30036200-30038800	Strong transcription	Placenta	Placenta
10	chr6:30036200-30039400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:30036400-30038400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr6:30036400-30038400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:30036400-30038400	Strong transcription	Brain Cingulate Gyrus	brain
14	chr6:30036400-30038600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:30036400-30038800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:30036400-30040000	Weak transcription	Stomach Mucosa	stomach
17	chr6:30036600-30038400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:30036600-30038400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:30036600-30038400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:30036600-30038400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:30036600-30038400	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr6:30036600-30038400	Strong transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:30036600-30038400	Strong transcription	Spleen	Spleen
24	chr6:30036600-30038800	Strong transcription	Dnd41	blood
25	chr6:30036600-30038800	Weak transcription	HSMM	muscle
26	chr6:30036600-30039600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:30036600-30039800	Weak transcription	HepG2	liver
28	chr6:30036600-30040600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:30036600-30040800	Strong transcription	NHEK	skin
30	chr6:30036800-30038400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:30036800-30038400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:30036800-30038600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:30036800-30038600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:30036800-30038800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr6:30036800-30039000	Strong transcription	Lung	lung
36	chr6:30036800-30039400	Weak transcription	Brain Angular Gyrus	brain
37	chr6:30036800-30042400	Weak transcription	Hela-S3	cervix
38	chr6:30037000-30038400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:30037000-30038400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:30037000-30038600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:30037000-30038800	Strong transcription	Brain Hippocampus Middle	brain
42	chr6:30037200-30038400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:30037200-30038400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:30037200-30038800	Bivalent Enhancer	Brain Germinal Matrix	brain
45	chr6:30037200-30038800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr6:30037200-30038800	Weak transcription	NHLF	lung
47	chr6:30037200-30039800	Strong transcription	Esophagus	oesophagus
48	chr6:30037200-30040600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:30037400-30038400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:30037400-30038400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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