Variant report

Variant	rs34087264
Chromosome Location	chr16:70323126-70323127
allele	A/G
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	chr16:70322065-70323587	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:70322127-70324158	MCF10A-Er-Src	breast:	n/a	n/a
3	POU2F2	chr16:70323053-70323511	GM12878	blood:	n/a	chr16:70323336-70323348
4	REST	chr16:70322429-70324241	H1-neurons	neurons:	n/a	chr16:70323144-70323157
5	BACH1	chr16:70323079-70323289	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr16:70323126-70323943	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:70321518-70323639	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr16:70322996-70323662	MCF-7	breast:	n/a	n/a
9	POLR2A	chr16:70322717-70323902	HCT-116	colon:	n/a	n/a
10	CEBPD	chr16:70323007-70323826	K562	blood:	n/a	chr16:70323586-70323597
11	NR2F2	chr16:70322799-70323639	MCF-7	breast:	n/a	n/a
12	PAX5	chr16:70323081-70323518	GM12878	blood:	n/a	n/a
13	MAX	chr16:70322853-70323639	A549	lung:	n/a	chr16:70323587-70323596 chr16:70323623-70323632 chr16:70323216-70323225
14	SP2	chr16:70323033-70323735	HepG2	liver:	n/a	chr16:70323509-70323532
15	MAZ	chr16:70322842-70323999	HepG2	liver:	n/a	chr16:70323587-70323596 chr16:70323623-70323632 chr16:70323216-70323225
16	SIN3AK20	chr16:70322690-70323535	A549	lung:	n/a	n/a
17	TAF7	chr16:70323079-70323516	K562	blood:	n/a	n/a
18	POLR2A	chr16:70322741-70323926	HUVEC	blood vessel:	n/a	n/a
19	FOSL2	chr16:70322987-70323601	A549	lung:	n/a	chr16:70323452-70323461
20	HEY1	chr16:70321947-70323572	K562	blood:	n/a	chr16:70323144-70323159
21	MAX	chr16:70322910-70323636	MCF-7	breast:	n/a	chr16:70323587-70323596 chr16:70323623-70323632 chr16:70323216-70323225
22	CTCF	chr16:70323040-70323190	Caco-2	colon:	n/a	n/a
23	CTCF	chr16:70323020-70323170	GM12865	blood:	n/a	n/a
24	TAF1	chr16:70323087-70323512	GM12892	blood:	n/a	n/a
25	POLR2A	chr16:70322259-70323937	H1-neurons	neurons:	n/a	n/a
26	NFIC	chr16:70323081-70323612	HepG2	liver:	n/a	n/a
27	EGR1	chr16:70323033-70323865	K562	blood:	n/a	n/a
28	NR2F2	chr16:70323045-70323637	K562	blood:	n/a	n/a
29	BRCA1	chr16:70322772-70323434	H1-hESC	embryonic stem cell:	n/a	n/a
30	TCF12	chr16:70322813-70324029	A549	lung:	n/a	chr16:70323016-70323023 chr16:70323015-70323025
31	MAX	chr16:70323090-70323787	H1-hESC	embryonic stem cell:	n/a	chr16:70323587-70323596 chr16:70323623-70323632 chr16:70323216-70323225
32	SIN3A	chr16:70322818-70323904	GM12878	blood:	n/a	chr16:70323275-70323286
33	POLR2A	chr16:70322060-70323613	GM12878	blood:	n/a	n/a
34	HDAC2	chr16:70322996-70323600	HepG2	liver:	n/a	n/a
35	JUND	chr16:70323036-70323426	H1-hESC	embryonic stem cell:	n/a	n/a
36	HEY1	chr16:70322618-70323624	HepG2	liver:	n/a	chr16:70323144-70323159
37	MAX	chr16:70322896-70323913	H1-hESC	embryonic stem cell:	n/a	chr16:70323587-70323596 chr16:70323623-70323632 chr16:70323216-70323225
38	POLR2A	chr16:70322681-70323914	K562	blood:	n/a	n/a
39	BRCA1	chr16:70323069-70323841	HepG2	liver:	n/a	n/a
40	CHD1	chr16:70322237-70324310	IMR90	lung:	n/a	n/a
41	POLR2A	chr16:70322935-70323928	NB4	blood:	n/a	n/a
42	POLR2A	chr16:70322148-70323993	U87	brain:	n/a	n/a
43	POLR2A	chr16:70321981-70323926	K562	blood:	n/a	n/a
44	MYC	chr16:70322977-70323840	K562	blood:	n/a	chr16:70323587-70323596 chr16:70323623-70323632 chr16:70323216-70323225
45	HA-E2F1	chr16:70322700-70323646	MCF-7	breast:	n/a	n/a
46	BCL3	chr16:70322862-70323649	A549	lung:	n/a	chr16:70323482-70323491
47	UBTF	chr16:70322996-70323559	K562	blood:	n/a	n/a
48	POLR2A	chr16:70322561-70323664	GM12878	blood:	n/a	n/a
49	CHD2	chr16:70322762-70323858	K562	blood:	n/a	n/a
50	POLR2A	chr16:70322946-70323533	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70323092..70323796-chr19:3184997..3185600,2	NB4	blood:
2	chr16:70322925..70323494-chr20:5986425..5987020,2	NB4	blood:
3	chr16:70321381..70324414-chr16:70379252..70382918,7	MCF-7	breast:
4	chr16:70319780..70324322-chr16:70325066..70330067,6	MCF-7	breast:
5	chr16:70284207..70286196-chr16:70321648..70323975,3	MCF-7	breast:
6	chr16:70322920..70323498-chr17:56736520..56737074,2	Hela-S3	cervix:
7	chr16:70321887..70324896-chr16:70556007..70561529,9	K562	blood:
8	chr16:70321686..70323395-chr16:70461245..70463196,2	K562	blood:
9	chr16:70322876..70323772-chr17:41465559..41466447,3	NB4	blood:
10	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:
11	chr16:70322955..70323883-chr2:38978031..38978813,2	Hela-S3	cervix:
12	chr16:70320190..70323478-chr16:70561149..70564718,3	K562	blood:
13	chr16:70321820..70325241-chr16:70331601..70337689,10	MCF-7	breast:
14	chr16:69795308..69797439-chr16:70322057..70323697,2	K562	blood:
15	chr16:70318554..70325188-chr16:70378714..70382302,15	K562	blood:
16	chr16:70322957..70323803-chr20:57463837..57464602,2	Hela-S3	cervix:
17	chr16:70321668..70323316-chr16:70719219..70720791,2	K562	blood:
18	chr16:70320111..70324850-chr16:70378173..70382680,12	K562	blood:
19	chr16:70321891..70324896-chr16:70556007..70559559,7	K562	blood:
20	chr16:70321807..70326700-chr16:70327142..70336316,14	MCF-7	breast:
21	chr16:70321558..70325394-chr16:70325539..70331219,12	K562	blood:
22	chr11:71750300..71753281-chr16:70322027..70323675,2	MCF-7	breast:
23	chr16:70321709..70323528-chr16:70379604..70382270,2	MCF-7	breast:
24	chr16:70298741..70301676-chr16:70322004..70324740,3	MCF-7	breast:
25	chr16:70283625..70285831-chr16:70321379..70323186,2	K562	blood:
26	chr16:70294294..70298794-chr16:70322473..70325438,5	K562	blood:

Variant related genes	Relation type
DDX19B	TF binding region
ENSG00000088766	Chromatin interaction
ENSG00000125912	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000225806	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000223496	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000087460	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000198373	Chromatin interaction
ENSG00000221514	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000265230	Chromatin interaction
ENSG00000137497	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 53 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1134074	0.89[CEU][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap]
rs12447090	0.83[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap]
rs2070203	1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2287983	0.87[JPT][hapmap]
rs2549084	0.81[CEU][hapmap]
rs28733806	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34270587	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35567919	0.83[EUR][1000 genomes]
rs3859068	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4985407	0.94[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4985525	0.92[CEU][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap]
rs66627085	0.83[AMR][1000 genomes]
rs7189474	0.94[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs7192268	0.94[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap]
rs7200430	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs775208	0.94[ASN][1000 genomes]
rs7919	0.81[CHD][hapmap];0.95[JPT][hapmap]
rs8058224	0.94[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap]
rs8062183	0.82[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs936994	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs9934440	0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv906870	chr16:70295061-70323126	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
6	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:53)

SNP	Gene	Cis/trans	Tissue	Source
rs34087264	EXOSC6	cis	cerebellum	SCAN
rs34087264	CLEC18C	cis	Artery Tibial	GTEx
rs34087264	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs34087264	RP11-419C5.2	cis	Nerve Tibial	GTEx
rs34087264	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs34087264	CLEC18A	cis	Thyroid	GTEx
rs34087264	EXOSC6	cis	Artery Tibial	GTEx
rs34087264	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs34087264	CLEC18A	cis	Stomach	GTEx
rs34087264	RP11-419C5.2	cis	Esophagus Mucosa	GTEx
rs34087264	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs34087264	RP11-419C5.2	cis	lung	GTEx
rs34087264	PDXDC2P	cis	lung	GTEx
rs34087264	PDXDC2P	cis	Muscle Skeletal	GTEx
rs34087264	AARS	Cis_1M	lymphoblastoid	RTeQTL
rs34087264	CLEC18C	cis	Nerve Tibial	GTEx
rs34087264	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs34087264	PDXDC2P	cis	Adipose Subcutaneous	GTEx
rs34087264	CLEC18A	cis	Artery Tibial	GTEx
rs34087264	RP11-296I10.6	cis	Nerve Tibial	GTEx
rs34087264	RP11-419C5.2	cis	Adipose Subcutaneous	GTEx
rs34087264	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs34087264	EXOSC6	cis	Heart Left Ventricle	GTEx
rs34087264	TMCO7	cis	parietal	SCAN
rs34087264	CLEC18A	cis	Artery Aorta	GTEx
rs34087264	PDXDC2P	cis	Nerve Tibial	GTEx
rs34087264	CLEC18C	cis	Thyroid	GTEx
rs34087264	RP11-296I10.6	cis	lung	GTEx
rs34087264	RP11-419C5.2	cis	Thyroid	GTEx
rs34087264	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs34087264	PDXDC2P	cis	Thyroid	GTEx
rs34087264	CLEC18C	cis	lung	GTEx
rs34087264	COG4	cis	lymphoblastoid	seeQTL
rs34087264	EXOSC6	cis	Nerve Tibial	GTEx
rs34087264	PDXDC2P	cis	parietal	SCAN
rs34087264	CLEC18C	cis	Whole Blood	GTEx
rs34087264	CLEC18A	cis	Whole Blood	GTEx
rs34087264	EXOSC6	cis	parietal	SCAN
rs34087264	EXOSC6	cis	Muscle Skeletal	GTEx
rs34087264	RP11-296I10.6	cis	Esophagus Muscularis	GTEx
rs34087264	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs34087264	RANBP10	cis	parietal	SCAN
rs34087264	RP11-296I10.6	cis	Adipose Subcutaneous	GTEx
rs34087264	EXOSC6	cis	Skin Sun Exposed Lower leg	GTEx
rs34087264	CLEC18A	cis	lung	GTEx
rs34087264	WWP2	cis	parietal	SCAN
rs34087264	CLEC18A	cis	Esophagus Mucosa	GTEx
rs34087264	RP11-296I10.6	cis	Thyroid	GTEx
rs34087264	CLEC18A	cis	Muscle Skeletal	GTEx
rs34087264	PDXDC2P	cis	Esophagus Mucosa	GTEx
rs34087264	CLEC18A	cis	Adipose Subcutaneous	GTEx
rs34087264	RP11-296I10.6	cis	Artery Tibial	GTEx
rs34087264	EXOSC6	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70321200-70324200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr16:70321400-70323800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:70321400-70323800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:70321400-70323800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr16:70321400-70323800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr16:70321400-70323800	Active TSS	NHLF	lung
7	chr16:70321400-70324000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr16:70321400-70324000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr16:70321400-70324000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr16:70321400-70324200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr16:70321600-70323600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:70321600-70323600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr16:70321600-70323600	Active TSS	NHEK	skin
14	chr16:70321600-70323800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:70321600-70323800	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr16:70321600-70323800	Active TSS	Brain Substantia Nigra	brain
17	chr16:70321600-70323800	Active TSS	Rectal Smooth Muscle	rectum
18	chr16:70321600-70323800	Active TSS	HMEC	breast
19	chr16:70321600-70323800	Active TSS	NH-A	brain
20	chr16:70321600-70324000	Active TSS	Right Ventricle	heart
21	chr16:70321600-70324200	Active TSS	Colonic Mucosa	Colon
22	chr16:70321600-70324400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:70321600-70324600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:70321800-70323400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:70321800-70323600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:70321800-70323800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr16:70321800-70323800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr16:70321800-70323800	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr16:70321800-70323800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr16:70321800-70323800	Active TSS	K562	blood
31	chr16:70321800-70324000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr16:70321800-70324000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:70321800-70324000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:70321800-70324000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:70321800-70324000	Active TSS	Brain Angular Gyrus	brain
36	chr16:70321800-70324000	Active TSS	Brain Anterior Caudate	brain
37	chr16:70321800-70324000	Active TSS	Duodenum Mucosa	Duodenum
38	chr16:70321800-70324000	Active TSS	Psoas Muscle	Psoas
39	chr16:70321800-70324000	Active TSS	A549	lung
40	chr16:70321800-70324000	Active TSS	Osteobl	bone
41	chr16:70321800-70324200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:70321800-70324200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr16:70321800-70324200	Active TSS	Hela-S3	cervix
44	chr16:70321800-70324600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:70321800-70324600	Active TSS	GM12878-XiMat	blood
46	chr16:70322000-70323200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr16:70322000-70323800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:70322000-70323800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:70322000-70323800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:70322000-70324000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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