Variant report

Variant	rs3752785
Chromosome Location	chr16:70696367-70696368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70694604..70697183-chr16:70727406..70729893,2	K562	blood:
2	chr16:70691222..70695511-chr16:70695866..70699459,4	MCF-7	breast:
3	chr16:70696273..70698842-chr16:70700749..70702411,2	MCF-7	breast:
4	chr16:70695734..70697501-chr16:70719641..70721197,2	MCF-7	breast:
5	chr16:70696022..70698192-chr16:70722301..70724411,2	K562	blood:
6	chr16:70557404..70559020-chr16:70695143..70697780,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132613	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2054183	0.80[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
11	nsv906881	chr16:70688073-70700214	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv906882	chr16:70690989-70725815	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv906883	chr16:70694000-70704974	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv906884	chr16:70696009-70725815	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3752785	NOB1	cis	cerebellum	SCAN
rs3752785	PPT1	trans	cerebellum	SCAN
rs3752785	RLTPR	cis	cerebellum	SCAN
rs3752785	PKD1L3	cis	parietal	SCAN
rs3752785	TMED6	cis	cerebellum	SCAN
rs3752785	C1orf116	trans	cerebellum	SCAN
rs3752785	IL34	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70688200-70696400	Weak transcription	Brain Anterior Caudate	brain
5	chr16:70688200-70697200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:70688200-70698000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:70688200-70700400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr16:70688200-70701400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:70688200-70704800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:70688400-70696600	Weak transcription	Fetal Lung	lung
11	chr16:70688400-70697200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:70688400-70697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:70688400-70697200	Weak transcription	Adipose Nuclei	Adipose
14	chr16:70688400-70697200	Weak transcription	Brain Substantia Nigra	brain
15	chr16:70688400-70697200	Weak transcription	Colonic Mucosa	Colon
16	chr16:70688400-70697200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr16:70688400-70697200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:70688400-70697400	Weak transcription	Dnd41	blood
19	chr16:70688400-70697800	Weak transcription	Brain Angular Gyrus	brain
20	chr16:70688400-70699000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr16:70688400-70700400	Weak transcription	HUVEC	blood vessel
22	chr16:70688400-70701800	Weak transcription	Right Atrium	heart
23	chr16:70688400-70702400	Weak transcription	Psoas Muscle	Psoas
24	chr16:70688400-70715000	Weak transcription	Stomach Mucosa	stomach
25	chr16:70688600-70697000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:70688600-70697000	Weak transcription	Pancreas	Pancrea
27	chr16:70688600-70697200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:70688600-70697400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr16:70688600-70697400	Weak transcription	A549	lung
30	chr16:70688600-70697400	Weak transcription	NHEK	skin
31	chr16:70688600-70698400	Weak transcription	HMEC	breast
32	chr16:70688600-70702400	Weak transcription	Hela-S3	cervix
33	chr16:70688600-70702400	Weak transcription	K562	blood
34	chr16:70689000-70696800	Weak transcription	Aorta	Aorta
35	chr16:70690800-70696800	Strong transcription	Spleen	Spleen
36	chr16:70691200-70697200	Weak transcription	Gastric	stomach
37	chr16:70693000-70698400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:70693400-70699200	Weak transcription	Small Intestine	intestine
39	chr16:70693400-70700400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:70693600-70697600	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr16:70693800-70697200	Weak transcription	Left Ventricle	heart
42	chr16:70694200-70696400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr16:70694400-70697600	Genic enhancers	Fetal Stomach	stomach
44	chr16:70694400-70697800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr16:70694600-70699200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr16:70694800-70697200	Weak transcription	Primary T cells from cord blood	blood
48	chr16:70694800-70697400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:70695200-70697200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr16:70695200-70700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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