Variant report

Variant	rs12595971
Chromosome Location	chr16:82200309-82200310
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	POLR2A	chr16:82200248-82200800	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:82199140-82201949	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:82192311..82195081-chr16:82198371..82200683,2	K562	blood:
2	chr16:82181923..82184718-chr16:82200148..82202665,2	K562	blood:
3	chr16:82199846..82201653-chr16:82203599..82206559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261029	TF binding region
ENSG00000135698	Chromatin interaction
ENSG00000261029	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10514532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1134847	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645286	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11859473	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866709	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866711	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102917	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12597010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12597171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12597534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12599946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12599988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303261	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303264	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2303265	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911425	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911429	0.94[EUR][1000 genomes]
rs2967359	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967361	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967363	1.00[ASN][1000 genomes]
rs2967375	0.91[EUR][1000 genomes]
rs35865749	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889479	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62044258	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62044259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045961	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62045964	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67612167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67661146	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7194734	0.80[EUR][1000 genomes]
rs7200628	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205534	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206093	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72628279	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
12	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12595971	MPHOSPH6	cis	Artery Tibial	GTEx
rs12595971	MPHOSPH6	Cis_1M	lymphoblastoid	RTeQTL
rs12595971	MPHOSPH6	cis	Thyroid	GTEx
rs12595971	MPHOSPH6	cis	Stomach	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82173400-82203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:82186000-82201600	Strong transcription	Primary T cells from cord blood	blood
3	chr16:82186400-82202800	Weak transcription	Psoas Muscle	Psoas
4	chr16:82186600-82202600	Weak transcription	Stomach Mucosa	stomach
5	chr16:82187400-82200600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:82188400-82202200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr16:82191000-82201000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:82191200-82200800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:82191200-82201000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr16:82191400-82201000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:82192000-82200400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:82192400-82200800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr16:82192600-82201200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:82193000-82200400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr16:82193000-82201600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr16:82193200-82200400	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr16:82193200-82200800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:82193200-82200800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:82193200-82201000	Strong transcription	Fetal Intestine Large	intestine
20	chr16:82193200-82201800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr16:82193400-82200400	Strong transcription	Dnd41	blood
22	chr16:82193400-82200800	Strong transcription	HMEC	breast
23	chr16:82193400-82201200	Strong transcription	Fetal Muscle Leg	muscle
24	chr16:82193400-82201200	Strong transcription	NHLF	lung
25	chr16:82193400-82201400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr16:82193400-82201600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:82193400-82201600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:82193400-82201600	Strong transcription	Fetal Stomach	stomach
29	chr16:82193400-82201800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr16:82193400-82201800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:82193400-82202000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr16:82193600-82201400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:82193800-82200800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr16:82193800-82200800	Strong transcription	Brain Hippocampus Middle	brain
35	chr16:82193800-82202000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:82194000-82200400	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:82194000-82200800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr16:82194000-82200800	Strong transcription	K562	blood
39	chr16:82194000-82201000	Strong transcription	HSMM	muscle
40	chr16:82194000-82201400	Strong transcription	NHEK	skin
41	chr16:82194000-82201600	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr16:82194400-82200400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:82194600-82200600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:82194600-82201600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:82195800-82202000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:82196200-82202200	Weak transcription	Esophagus	oesophagus
47	chr16:82196400-82202800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:82196400-82203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:82196400-82203400	Weak transcription	Aorta	Aorta
50	chr16:82196400-82203400	Weak transcription	Placenta Amnion	Placenta Amnion

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