Variant report

Variant	rs7205918
Chromosome Location	chr16:70288732-70288733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70284783-70289133	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr16:70288318-70289025	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:70284782-70289143	K562	blood:	n/a	n/a
4	POLR2A	chr16:70284703-70288988	HL-60	blood:	n/a	n/a
5	POLR2A	chr16:70284861-70289098	K562	blood:	n/a	n/a
6	POLR2A	chr16:70284659-70289218	K562	blood:	n/a	n/a
7	POLR2A	chr16:70284876-70289138	K562	blood:	n/a	n/a
8	POLR2A	chr16:70284764-70290858	K562	blood:	n/a	n/a
9	POLR2A	chr16:70284426-70289079	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr16:70288341-70289142	K562	blood:	n/a	n/a
11	POLR2A	chr16:70288239-70289052	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr16:70287659-70289172	K562	blood:	n/a	n/a
13	CCNT2	chr16:70288692-70288957	K562	blood:	n/a	n/a
14	POLR2A	chr16:70287792-70289002	HepG2	liver:	n/a	n/a
15	POLR2A	chr16:70287355-70288955	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr16:70288524-70288813	HCT-116	colon:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70286317..70289211-chr16:70320911..70324702,4	K562	blood:
2	chr16:70284023..70286504-chr16:70288098..70289777,2	MCF-7	breast:
3	chr16:70287173..70288856-chr16:70293033..70295926,2	MCF-7	breast:
4	chr16:70287320..70289608-chr16:70290173..70293534,4	K562	blood:
5	chr16:70287090..70289744-chr16:70321659..70325168,3	MCF-7	breast:
6	chr16:70285539..70287292-chr16:70288159..70289813,2	K562	blood:
7	chr16:70287987..70291315-chr16:70292990..70294752,3	K562	blood:
8	chr16:70286246..70291555-chr16:70316780..70324702,12	K562	blood:
9	chr16:70285876..70288887-chr16:70302566..70307390,4	K562	blood:

No data

Variant related genes	Relation type
EXOSC6	TF binding region
ENSG00000223496	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000157349	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11859191	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11859730	0.82[AFR][1000 genomes]
rs11860870	1.00[MEX][hapmap]
rs11861097	0.84[AMR][1000 genomes]
rs11861651	1.00[AMR][1000 genomes]
rs11862053	1.00[MEX][hapmap]
rs11862150	1.00[EUR][1000 genomes]
rs11862188	1.00[EUR][1000 genomes]
rs11863128	0.84[AFR][1000 genomes]
rs11863943	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11864179	1.00[EUR][1000 genomes]
rs11865484	1.00[EUR][1000 genomes]
rs11865564	1.00[EUR][1000 genomes]
rs16970121	0.86[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs16970133	0.86[ASW][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap]
rs16970141	1.00[MEX][hapmap]
rs16970147	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16970151	1.00[MEX][hapmap]
rs16970152	1.00[MEX][hapmap]
rs16970159	1.00[MEX][hapmap]
rs16970165	1.00[MEX][hapmap]
rs16970169	1.00[MEX][hapmap]
rs16970302	0.86[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970361	1.00[MEX][hapmap]
rs17878609	1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	1.00[EUR][1000 genomes]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	1.00[EUR][1000 genomes]
rs28438754	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3972077	1.00[AMR][1000 genomes]
rs3972090	0.92[AMR][1000 genomes]
rs55657328	1.00[EUR][1000 genomes]
rs55769835	1.00[EUR][1000 genomes]
rs55805938	1.00[EUR][1000 genomes]
rs55819743	1.00[EUR][1000 genomes]
rs55936739	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55963712	0.84[AMR][1000 genomes]
rs56050266	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56077083	1.00[AMR][1000 genomes]
rs56082018	1.00[EUR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57422630	1.00[EUR][1000 genomes]
rs57492770	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58047061	1.00[EUR][1000 genomes]
rs58131227	1.00[EUR][1000 genomes]
rs58328210	1.00[EUR][1000 genomes]
rs58434182	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58467558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59272950	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59384897	1.00[EUR][1000 genomes]
rs59612351	1.00[EUR][1000 genomes]
rs60058920	0.92[AMR][1000 genomes]
rs60426209	1.00[EUR][1000 genomes]
rs60815141	1.00[EUR][1000 genomes]
rs61319691	1.00[EUR][1000 genomes]
rs6499307	0.84[AMR][1000 genomes]
rs6499312	0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7188864	1.00[EUR][1000 genomes]
rs7189535	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs7190536	1.00[EUR][1000 genomes]
rs7190921	1.00[EUR][1000 genomes]
rs7192000	0.86[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195086	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7195567	1.00[MEX][hapmap]
rs7196392	1.00[MEX][hapmap]
rs7198871	0.81[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199346	1.00[EUR][1000 genomes]
rs7199655	1.00[EUR][1000 genomes]
rs7203761	0.86[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap]
rs7203772	1.00[MEX][hapmap];0.83[YRI][hapmap]
rs7205990	1.00[MEX][hapmap]
rs7206347	1.00[EUR][1000 genomes]
rs74024182	1.00[EUR][1000 genomes]
rs74024183	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024184	1.00[EUR][1000 genomes]
rs74024185	1.00[EUR][1000 genomes]
rs74024186	1.00[EUR][1000 genomes]
rs74024188	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74026022	1.00[EUR][1000 genomes]
rs74026033	1.00[EUR][1000 genomes]
rs74026049	1.00[EUR][1000 genomes]
rs8045571	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046662	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs8046786	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8049046	1.00[EUR][1000 genomes]
rs8053657	1.00[EUR][1000 genomes]
rs8054203	1.00[EUR][1000 genomes]
rs8055675	0.84[AMR][1000 genomes]
rs8056048	1.00[AMR][1000 genomes]
rs8056196	0.84[AMR][1000 genomes]
rs8056811	0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs8062602	1.00[EUR][1000 genomes]
rs8064090	1.00[EUR][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	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1820100	chr16:70048808-70311044	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv1801017	chr16:70141558-70303736	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	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
9	esv1796562	chr16:70206819-70289517	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv1825452	chr16:70206819-70289517	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv1804795	chr16:70206819-70294463	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	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
13	nsv906868	chr16:70270429-70292810	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv906869	chr16:70285901-70292810	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70285000-70289800	Weak transcription	Fetal Brain Male	brain
2	chr16:70285800-70291600	Weak transcription	Fetal Kidney	kidney
3	chr16:70285800-70310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:70286000-70288800	Strong transcription	Fetal Lung	lung
5	chr16:70286000-70291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:70286000-70291400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:70286000-70296200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:70286000-70299600	Strong transcription	Colonic Mucosa	Colon
9	chr16:70286000-70299800	Strong transcription	HSMMtube	muscle
10	chr16:70286000-70300000	Strong transcription	GM12878-XiMat	blood
11	chr16:70286000-70306200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr16:70286000-70307400	Strong transcription	Primary T cells from cord blood	blood
13	chr16:70286000-70316400	Strong transcription	Liver	Liver
14	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine
15	chr16:70286000-70319000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:70286000-70320400	Strong transcription	Osteobl	bone
22	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:70286200-70288800	Strong transcription	Fetal Intestine Small	intestine
25	chr16:70286200-70291200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr16:70286200-70292800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr16:70286200-70294800	Strong transcription	Colon Smooth Muscle	Colon
28	chr16:70286200-70295000	Strong transcription	HMEC	breast
29	chr16:70286200-70296600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:70286200-70299800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr16:70286200-70300000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:70286200-70300000	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr16:70286200-70300000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:70286200-70300000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:70286200-70300000	Strong transcription	Brain Substantia Nigra	brain
36	chr16:70286200-70300000	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr16:70286200-70300000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr16:70286200-70300000	Strong transcription	NHDF-Ad	bronchial
39	chr16:70286200-70303400	Strong transcription	Lung	lung
40	chr16:70286200-70304600	Strong transcription	A549	lung
41	chr16:70286200-70305800	Strong transcription	Gastric	stomach
42	chr16:70286200-70306000	Strong transcription	Brain Hippocampus Middle	brain
43	chr16:70286200-70306000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:70286200-70306800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:70286200-70306800	Strong transcription	Right Ventricle	heart
46	chr16:70286200-70306800	Strong transcription	NHLF	lung
47	chr16:70286200-70307400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr16:70286200-70307400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:70286200-70307400	Strong transcription	Brain Cingulate Gyrus	brain
50	chr16:70286200-70307600	Strong transcription	Brain Angular Gyrus	brain

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