Variant report

Variant	rs8045394
Chromosome Location	chr16:71779742-71779743
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71779409..71781873-chr16:71787219..71789998,2	K562	blood:
2	chr16:71770040..71772429-chr16:71777706..71780702,2	MCF-7	breast:
3	chr16:71779212..71782011-chr16:71841808..71844042,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11075896	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs11075897	1.00[YRI][hapmap]
rs13334187	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap]
rs13334255	1.00[YRI][hapmap]
rs13338868	0.88[LWK][hapmap]
rs28436203	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6499544	1.00[ASW][hapmap];0.94[MKK][hapmap];0.84[YRI][hapmap]
rs7191105	0.82[YRI][hapmap]
rs7198645	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8051461	0.84[YRI][hapmap]
rs8059131	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs9302626	0.89[YRI][hapmap]
rs9302628	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs9921383	1.00[ASW][hapmap];0.94[MKK][hapmap]
rs9923154	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs9928298	1.00[ASW][hapmap];0.94[LWK][hapmap];0.90[YRI][hapmap]
rs9930271	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs9930588	1.00[YRI][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8045394	MARVELD3	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71761000-71805600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:71762200-71811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71763200-71799800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:71763200-71812600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:71763400-71802200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:71763600-71784400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:71763600-71786200	Strong transcription	Osteobl	bone
8	chr16:71763600-71793000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr16:71763600-71800000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:71763600-71801400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:71763600-71812400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:71763800-71799600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:71763800-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:71764000-71784200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr16:71764000-71785200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr16:71764000-71804800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:71764000-71813000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:71764200-71784400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr16:71764400-71782000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr16:71764400-71784400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:71764400-71784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:71764600-71784600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr16:71764800-71802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr16:71765600-71785200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:71767000-71784600	Strong transcription	Fetal Muscle Leg	muscle
26	chr16:71767000-71787400	Weak transcription	Stomach Mucosa	stomach
27	chr16:71769000-71783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr16:71770400-71785600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:71770600-71784400	Strong transcription	Adipose Nuclei	Adipose
30	chr16:71770600-71784600	Strong transcription	Fetal Thymus	thymus
31	chr16:71770600-71793000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:71770600-71796000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:71770600-71798600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:71770600-71799600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr16:71770800-71782400	Strong transcription	HUVEC	blood vessel
36	chr16:71770800-71784200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr16:71770800-71784200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr16:71770800-71793200	Strong transcription	HSMM	muscle
39	chr16:71770800-71793600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:71770800-71795800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:71770800-71799600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr16:71770800-71810600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr16:71770800-71813800	Strong transcription	Liver	Liver
44	chr16:71771000-71784400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr16:71771000-71784400	Strong transcription	Fetal Lung	lung
46	chr16:71771000-71793200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:71771000-71812200	Strong transcription	Placenta	Placenta
48	chr16:71771400-71784200	Strong transcription	NHDF-Ad	bronchial
49	chr16:71772400-71783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:71773200-71786600	Weak transcription	Fetal Brain Male	brain

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