Variant report

Variant	rs3812071
Chromosome Location	chr5:177575266-177575267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177573926..177577755-chr5:177626660..177630083,3	MCF-7	breast:
2	chr5:177547044..177549748-chr5:177575234..177578369,3	K562	blood:
3	chr5:177556109..177558644-chr5:177574334..177576029,3	K562	blood:
4	chr5:177572705..177577722-chr5:177630592..177633512,5	MCF-7	breast:
5	chr5:177573566..177575503-chr5:177631642..177633223,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-N4BP3-1	chr5:177574970-177575478	NONHSAT105516

No data

Variant related genes	Relation type
ENSG00000145916	Chromatin interaction
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11750481	1.00[YRI][hapmap]
rs2961671	1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs61749659	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61751560	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
4	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
5	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv965520	chr5:177570961-177577311	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3352132	chr5:177572746-177576144	Genic enhancers Strong transcription Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3812071	ENSG00000145916	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177558800-177576800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:177559000-177580000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:177559000-177580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:177559200-177579800	Weak transcription	Right Atrium	heart
5	chr5:177559800-177577600	Weak transcription	Fetal Brain Male	brain
6	chr5:177560200-177579400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:177560200-177579600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:177560200-177579800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:177560400-177578400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:177560400-177578400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:177560400-177578600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:177560600-177579400	Strong transcription	Fetal Intestine Small	intestine
13	chr5:177560800-177579400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:177560800-177579600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:177561000-177578000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:177561000-177578200	Strong transcription	Adipose Nuclei	Adipose
17	chr5:177561000-177578800	Strong transcription	Thymus	Thymus
18	chr5:177561000-177579200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:177561000-177579400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:177561000-177579800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr5:177561200-177578800	Strong transcription	Primary T cells from cord blood	blood
22	chr5:177561200-177579400	Strong transcription	Fetal Thymus	thymus
23	chr5:177562200-177577400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:177562200-177578800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:177566800-177576400	Strong transcription	Dnd41	blood
26	chr5:177566800-177576800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:177567000-177578000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:177567000-177578200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:177567000-177578800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:177567000-177579000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:177567200-177578600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:177567400-177579000	Strong transcription	Fetal Brain Female	brain
33	chr5:177568000-177578600	Strong transcription	HepG2	liver
34	chr5:177568000-177578800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:177568200-177579400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr5:177568400-177578600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:177568400-177578600	Strong transcription	Colonic Mucosa	Colon
38	chr5:177568600-177576200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:177568800-177576400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:177568800-177576400	Strong transcription	Brain Hippocampus Middle	brain
41	chr5:177568800-177577000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:177568800-177577200	Strong transcription	Right Ventricle	heart
43	chr5:177568800-177578600	Strong transcription	Left Ventricle	heart
44	chr5:177568800-177578800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:177568800-177579600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:177569000-177578600	Strong transcription	Brain Germinal Matrix	brain
47	chr5:177569000-177579000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:177569000-177579600	Strong transcription	Osteobl	bone
49	chr5:177569200-177577200	Strong transcription	Gastric	stomach
50	chr5:177569200-177578200	Strong transcription	Brain Angular Gyrus	brain

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