Variant report

Variant	rs8054087
Chromosome Location	chr16:70687228-70687229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr16:70687202-70688554	SK-N-SH	brain:	n/a	chr16:70688201-70688214 chr16:70687792-70687811

No.	Distal block	Cell Line	Cell type
1	chr16:70685129..70687949-chr16:70714245..70716905,2	K562	blood:
2	chr16:70686356..70687984-chr16:70719406..70721233,2	K562	blood:
3	chr16:70684913..70687861-chr16:70697213..70699784,2	MCF-7	breast:
4	chr16:70681076..70682967-chr16:70686271..70687994,2	K562	blood:

Variant related genes	Relation type
IL34	TF binding region
ENSG00000132613	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10163215	1.00[AMR][1000 genomes]
rs10163436	1.00[AMR][1000 genomes]
rs11859014	1.00[AMR][1000 genomes]
rs11866663	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970407	1.00[AMR][1000 genomes]
rs55638004	1.00[AMR][1000 genomes]
rs55641601	1.00[AMR][1000 genomes]
rs55952842	1.00[AMR][1000 genomes]
rs57770619	1.00[AMR][1000 genomes]
rs57982245	1.00[AMR][1000 genomes]
rs59149508	1.00[AMR][1000 genomes]
rs60762222	1.00[AMR][1000 genomes]
rs61077008	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206509	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206831	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024403	1.00[AMR][1000 genomes]
rs74024404	1.00[AMR][1000 genomes]
rs74024407	1.00[AMR][1000 genomes]
rs74024409	1.00[AMR][1000 genomes]
rs74024410	1.00[AMR][1000 genomes]
rs74024416	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026072	1.00[AMR][1000 genomes]
rs74026076	1.00[AMR][1000 genomes]
rs74026080	1.00[AMR][1000 genomes]
rs74026081	1.00[AMR][1000 genomes]
rs8049495	1.00[AMR][1000 genomes]
rs8057671	1.00[AMR][1000 genomes]
rs8061445	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
2	chr16:70680800-70687800	Weak transcription	Colonic Mucosa	Colon
3	chr16:70680800-70687800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr16:70681400-70687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr16:70681800-70687800	Weak transcription	Brain Substantia Nigra	brain
6	chr16:70681800-70687800	Weak transcription	HSMM	muscle
7	chr16:70682000-70687800	Weak transcription	Fetal Muscle Leg	muscle
8	chr16:70682000-70687800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr16:70682400-70687800	Weak transcription	Fetal Brain Male	brain
10	chr16:70682600-70687800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:70682800-70687800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:70682800-70687800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr16:70683200-70687800	Weak transcription	Fetal Stomach	stomach
14	chr16:70683200-70687800	Weak transcription	K562	blood
15	chr16:70683200-70688000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr16:70683600-70687600	Weak transcription	Brain Hippocampus Middle	brain
17	chr16:70683600-70687800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:70683600-70687800	Weak transcription	NHDF-Ad	bronchial
19	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:70684800-70687800	Weak transcription	Fetal Intestine Large	intestine
23	chr16:70685200-70687800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:70685200-70687800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr16:70685400-70687800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:70685600-70687400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:70685600-70687400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:70685600-70687400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr16:70685600-70687600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:70685600-70687800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr16:70685600-70687800	Weak transcription	Brain Anterior Caudate	brain
32	chr16:70685600-70687800	Weak transcription	HMEC	breast
33	chr16:70685600-70687800	Weak transcription	NH-A	brain
34	chr16:70685600-70687800	Weak transcription	NHLF	lung
35	chr16:70685600-70688000	Weak transcription	Spleen	Spleen
36	chr16:70685600-70688200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:70685600-70688200	Weak transcription	Esophagus	oesophagus
38	chr16:70685600-70693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:70685800-70687400	Weak transcription	Osteobl	bone
40	chr16:70685800-70687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:70686000-70687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:70686000-70687800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:70686200-70687400	Weak transcription	Adipose Nuclei	Adipose
44	chr16:70686400-70687400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:70686400-70687800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:70686400-70687800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:70686400-70687800	Weak transcription	HSMMtube	muscle
48	chr16:70686600-70687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:70686600-70687800	Weak transcription	A549	lung
50	chr16:70687000-70687800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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