Variant report

Variant	rs4346218
Chromosome Location	chr16:30980130-30980131
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30979846..30982270-chr16:31000039..31002091,2	K562	blood:
2	chr16:30968077..30973003-chr16:30975019..30982590,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099381	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11150601	0.81[AMR][1000 genomes]
rs2054213	0.81[AMR][1000 genomes]
rs2305884	0.81[AMR][1000 genomes]
rs4889599	0.81[AMR][1000 genomes]
rs897986	0.81[AMR][1000 genomes]

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	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
7	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
8	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
9	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
10	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
11	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
13	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
14	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
15	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
16	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
17	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS 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	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4346218	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs4346218	HSD3B7	cis	Muscle Skeletal	GTEx
rs4346218	HSD3B7	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30969200-30984800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:30970200-30980600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:30970400-30985800	Strong transcription	Aorta	Aorta
4	chr16:30970400-30986200	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr16:30970400-30986200	Strong transcription	HSMMtube	muscle
6	chr16:30970400-30987600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:30970400-30989800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:30970400-30993400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:30970400-30993800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr16:30970400-30994400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:30970400-30996200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:30970400-30996400	Weak transcription	Right Atrium	heart
13	chr16:30970400-30996600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:30970600-30983000	Weak transcription	Fetal Brain Male	brain
15	chr16:30970600-30986000	Strong transcription	Colonic Mucosa	Colon
16	chr16:30970600-30987400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:30970600-30987400	Strong transcription	NH-A	brain
18	chr16:30970600-30987600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:30970600-30990200	Strong transcription	A549	lung
20	chr16:30970600-30993600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr16:30970600-30994600	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:30970600-30994600	Strong transcription	Thymus	Thymus
23	chr16:30970600-30995400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr16:30970600-30995400	Strong transcription	Brain Substantia Nigra	brain
25	chr16:30970600-30995400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr16:30970600-30995600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:30970600-30995800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr16:30970600-30995800	Strong transcription	Left Ventricle	heart
29	chr16:30970600-30996000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:30970600-30996000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr16:30970600-30996200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr16:30970600-30996200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr16:30970600-30996200	Strong transcription	Placenta	Placenta
34	chr16:30970600-30996400	Strong transcription	Fetal Intestine Large	intestine
35	chr16:30970600-30996400	Strong transcription	Fetal Intestine Small	intestine
36	chr16:30970800-30984400	Strong transcription	K562	blood
37	chr16:30970800-30986000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr16:30970800-30986000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr16:30970800-30986200	Strong transcription	Rectal Smooth Muscle	rectum
40	chr16:30970800-30986200	Strong transcription	NHEK	skin
41	chr16:30970800-30987400	Strong transcription	Osteobl	bone
42	chr16:30970800-30989200	Strong transcription	NHLF	lung
43	chr16:30970800-30993800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr16:30970800-30994000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:30970800-30994000	Strong transcription	Fetal Muscle Leg	muscle
46	chr16:30970800-30994000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr16:30970800-30995000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:30970800-30995600	Strong transcription	Brain Angular Gyrus	brain
49	chr16:30970800-30995800	Strong transcription	Ovary	ovary
50	chr16:30970800-30995800	Strong transcription	Monocytes-CD14+_RO01746	blood

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