Variant report

Variant	rs7186662
Chromosome Location	chr16:46640695-46640696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:46640408..46641999-chr16:46649001..46651446,2	K562	blood:
2	chr16:46632677..46635528-chr16:46640441..46642160,2	K562	blood:
3	chr16:46588077..46588805-chr16:46640597..46641513,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171241	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10468399	0.85[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1651654	1.00[ASN][1000 genomes]
rs166161	0.84[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948661	1.00[ASN][1000 genomes]
rs17189741	1.00[ASN][1000 genomes]
rs17792604	0.85[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183672	1.00[ASN][1000 genomes]
rs2341041	1.00[ASN][1000 genomes]
rs252721	1.00[ASN][1000 genomes]
rs252722	1.00[ASN][1000 genomes]
rs28174	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28184	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485103	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444809	1.00[ASN][1000 genomes]
rs36310	0.85[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36312	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36462	1.00[ASN][1000 genomes]
rs36464	1.00[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36471	0.85[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36476	1.00[ASN][1000 genomes]
rs36481	1.00[CHD][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs36483	1.00[ASN][1000 genomes]
rs40163	0.85[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40355	0.85[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs41187	0.85[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141491	0.85[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415018	1.00[ASN][1000 genomes]
rs420865	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4401068	1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs4887592	1.00[ASN][1000 genomes]
rs4966606	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966616	0.85[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs4967393	0.85[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58061492	1.00[ASN][1000 genomes]
rs59064826	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60500837	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66508669	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66804065	1.00[ASN][1000 genomes]
rs67205347	1.00[ASN][1000 genomes]
rs67506574	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67611436	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67789219	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074363	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698418	1.00[ASN][1000 genomes]
rs700582	1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712816	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187475	1.00[ASN][1000 genomes]
rs7190713	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197033	1.00[ASN][1000 genomes]
rs7198951	1.00[ASN][1000 genomes]
rs7205668	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814883	1.00[ASN][1000 genomes]
rs72816835	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816877	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794279	0.85[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044684	0.85[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045353	1.00[ASN][1000 genomes]
rs8046748	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051017	1.00[CHD][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs808434	1.00[ASN][1000 genomes]
rs808780	1.00[ASN][1000 genomes]
rs808783	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1795764	chr16:46435905-46640695	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1807474	chr16:46435905-46640695	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1823645	chr16:46435905-46640695	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1832668	chr16:46435905-46640695	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1835093	chr16:46435905-46640695	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1843221	chr16:46435905-46640695	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	esv1848852	chr16:46463746-46659554	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers 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
9	nsv917899	chr16:46463769-46669332	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv1056162	chr16:46463770-46655516	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1066221	chr16:46463770-46699143	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS 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	38 gene(s)	inside rSNPs	diseases
14	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
15	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
16	esv1806429	chr16:46468179-46659554	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	esv1847767	chr16:46474763-46659354	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	esv1815153	chr16:46474763-46672206	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
19	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
20	nsv917049	chr16:46500615-46653014	Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
21	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
22	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
23	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
24	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
25	nsv833216	chr16:46501297-46671860	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
26	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
27	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
28	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7186662	LOC388272	Cis_1M	lymphoblastoid	RTeQTL
rs7186662	SHCBP1	cis	parietal	SCAN
rs7186662	LONP2	cis	cerebellum	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46608000-46654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:46609400-46646400	Weak transcription	Fetal Heart	heart
3	chr16:46614200-46650000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr16:46615200-46654400	Weak transcription	Fetal Kidney	kidney
5	chr16:46617200-46643800	Weak transcription	Fetal Stomach	stomach
6	chr16:46619600-46644600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:46620000-46654600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:46620800-46649800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:46621200-46647400	Weak transcription	NHDF-Ad	bronchial
10	chr16:46625200-46643000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:46625200-46652400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:46625200-46653600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:46625400-46643400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr16:46625400-46652200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:46625400-46652800	Strong transcription	Dnd41	blood
16	chr16:46625600-46654600	Weak transcription	Left Ventricle	heart
17	chr16:46626600-46652200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:46627200-46646400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr16:46627200-46651800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:46627400-46642400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:46627400-46643000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:46627600-46654400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:46627800-46642600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:46627800-46646800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:46628200-46642400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:46628200-46654600	Weak transcription	Esophagus	oesophagus
27	chr16:46628600-46654000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr16:46629000-46654600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:46629400-46654600	Weak transcription	Fetal Intestine Small	intestine
30	chr16:46629600-46646600	Weak transcription	Fetal Lung	lung
31	chr16:46630600-46643000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr16:46630600-46643200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:46630800-46653400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:46631200-46654200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:46632000-46654200	Weak transcription	Fetal Brain Female	brain
36	chr16:46632200-46654800	Weak transcription	Pancreas	Pancrea
37	chr16:46633000-46640800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:46633000-46649800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:46633200-46647200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:46633400-46654200	Weak transcription	Primary B cells from cord blood	blood
41	chr16:46633400-46654600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr16:46634000-46648000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:46635600-46654200	Weak transcription	Placenta	Placenta
44	chr16:46637800-46644800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:46637800-46647200	Weak transcription	Brain Germinal Matrix	brain
46	chr16:46638000-46643800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr16:46638000-46644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr16:46638000-46644600	Weak transcription	Fetal Muscle Leg	muscle
49	chr16:46638000-46644800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr16:46638000-46644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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