Variant report

Variant	rs1836547
Chromosome Location	chr16:75683326-75683327
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:75681110-75683751	GM18505	blood:	n/a	n/a
2	POLR2A	chr16:75683241-75683996	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr16:75681238-75683550	IMR90	lung:	n/a	chr16:75681623-75681633
4	WRNIP1	chr16:75682589-75683858	GM12878	blood:	n/a	n/a
5	CHD1	chr16:75681210-75683720	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:75680802-75684008	GM12878	blood:	n/a	n/a
7	MXI1	chr16:75680338-75684517	SK-N-SH	brain:	n/a	n/a
8	YY1	chr16:75683107-75683521	GM12892	blood:	n/a	n/a
9	ZNF384	chr16:75683282-75683662	GM12878	blood:	n/a	n/a
10	MAX	chr16:75683281-75683951	K562	blood:	n/a	n/a
11	POLR2A	chr16:75680668-75683681	PBDE	blood:	n/a	n/a
12	ZNF384	chr16:75683276-75683913	K562	blood:	n/a	n/a
13	POLR2A	chr16:75680754-75684242	GM12891	blood:	n/a	n/a
14	MXI1	chr16:75680549-75684242	IMR90	lung:	n/a	n/a
15	POLR2A	chr16:75681132-75683451	GM12892	blood:	n/a	n/a
16	SIN3AK20	chr16:75683271-75683562	SK-N-SH	brain:	n/a	n/a
17	REST	chr16:75681014-75684563	H1-neurons	neurons:	n/a	chr16:75681384-75681397 chr16:75682459-75682472
18	POLR2A	chr16:75683274-75683405	HUVEC	blood vessel:	n/a	n/a
19	YY1	chr16:75683091-75683518	GM12878	blood:	n/a	n/a
20	POLR2A	chr16:75683303-75683397	MCF-7	breast:	n/a	n/a
21	PAX5	chr16:75683161-75683463	GM12878	blood:	n/a	n/a
22	EGR1	chr16:75683295-75683534	K562	blood:	n/a	n/a
23	MXI1	chr16:75683148-75683915	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:75683091-75683750	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:75683156-75683333	GM12878	blood:	n/a	n/a
26	MYC	chr16:75683307-75683406	MCF-7	breast:	n/a	n/a
27	PAX5	chr16:75683042-75683520	GM12878	blood:	n/a	n/a
28	SMARCB1	chr16:75681152-75683354	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr16:75681210-75683783	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:75589371..75591308-chr16:75680950..75683874,2	K562	blood:
2	chr16:75682678..75684338-chr16:75706932..75709259,2	MCF-7	breast:
3	chr16:75682807..75685554-chr16:77222359..77225911,3	K562	blood:
4	chr16:75549952..75552218-chr16:75681885..75683701,2	K562	blood:
5	chr16:75284175..75286207-chr16:75680901..75683623,2	MCF-7	breast:
6	chr16:75548080..75552218-chr16:75679936..75683385,4	K562	blood:
7	chr16:75600704..75602997-chr16:75682775..75685144,2	K562	blood:
8	chr16:75655020..75658877-chr16:75680481..75684905,8	MCF-7	breast:
9	chr16:75588411..75591308-chr16:75680950..75683486,5	K562	blood:

No data

Variant related genes	Relation type
KARS	TF binding region
ENSG00000050820	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000103111	Chromatin interaction
ENSG00000065457	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10871314	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12443899	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12445389	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12445937	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12446652	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12595883	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12596033	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12596083	0.81[EUR][1000 genomes]
rs12596724	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12596857	0.81[AMR][1000 genomes]
rs12598094	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12598741	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12598751	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12599212	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12599322	0.91[AMR][1000 genomes]
rs12600066	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12600271	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16940253	0.87[AMR][1000 genomes]
rs16940467	0.85[AMR][1000 genomes]
rs17697211	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17764821	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17764918	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1812507	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1865493	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1979717	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2164245	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2242406	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2278469	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289063	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2903096	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35977374	0.83[AMR][1000 genomes]
rs3736377	0.84[AMR][1000 genomes]
rs3743599	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3743601	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3743603	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3743605	0.85[AMR][1000 genomes]
rs3851741	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41505349	0.80[AMR][1000 genomes]
rs4633754	0.83[AMR][1000 genomes]
rs4887833	0.83[AMR][1000 genomes]
rs4887835	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4887836	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4887837	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888436	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4888437	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4888440	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4888442	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4888444	0.93[EUR][1000 genomes]
rs4888448	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4888449	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888451	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888455	0.81[EUR][1000 genomes]
rs56954102	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57208266	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57252551	0.87[AMR][1000 genomes]
rs57396453	0.82[AMR][1000 genomes]
rs58091977	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58273293	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58508930	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58533792	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58597869	0.90[AMR][1000 genomes]
rs58673511	0.84[AMR][1000 genomes]
rs58719566	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58846463	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59449831	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59907199	0.84[AMR][1000 genomes]
rs60393074	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60952428	0.91[AMR][1000 genomes]
rs61036571	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61078946	0.86[AMR][1000 genomes]
rs61183686	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61537885	0.94[EUR][1000 genomes]
rs61539645	0.82[AMR][1000 genomes]
rs6564268	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7186966	0.80[AMR][1000 genomes]
rs7187419	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7187672	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7193066	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7195338	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs719574	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7206799	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74027438	0.85[AMR][1000 genomes]
rs7499759	0.90[AMR][1000 genomes]
rs8048533	0.83[AMR][1000 genomes]
rs8051713	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8053219	0.82[AMR][1000 genomes]
rs8055329	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8056968	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8061505	0.80[AMR][1000 genomes]
rs8192516	0.90[AMR][1000 genomes]
rs963820	0.93[AMR][1000 genomes]
rs9788802	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers 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	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS 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 target site	37 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	chr16:75679800-75684600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr16:75680000-75683800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr16:75680000-75683800	Active TSS	A549	lung
4	chr16:75680000-75684400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:75680000-75684800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr16:75680200-75683800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr16:75680200-75684000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:75680200-75684600	Active TSS	K562	blood
9	chr16:75680200-75684800	Active TSS	HSMM	muscle
10	chr16:75680200-75685400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:75680200-75685400	Active TSS	NHLF	lung
12	chr16:75680400-75683800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:75680400-75684000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:75680400-75684200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:75680400-75684200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:75680400-75684200	Active TSS	NHDF-Ad	bronchial
17	chr16:75680600-75683600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:75680600-75683800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr16:75680600-75683800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr16:75680600-75683800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:75680600-75683800	Bivalent/Poised TSS	HepG2	liver
22	chr16:75680600-75684200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:75680600-75684200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:75680600-75684800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr16:75680800-75683400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:75680800-75683400	Active TSS	HMEC	breast
27	chr16:75680800-75683600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:75680800-75683600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:75680800-75683600	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr16:75680800-75683600	Active TSS	Duodenum Mucosa	Duodenum
31	chr16:75680800-75683600	Active TSS	Placenta	Placenta
32	chr16:75680800-75683600	Active TSS	Psoas Muscle	Psoas
33	chr16:75680800-75683600	Active TSS	Stomach Mucosa	stomach
34	chr16:75680800-75683600	Active TSS	NHEK	skin
35	chr16:75680800-75683600	Active TSS	Osteobl	bone
36	chr16:75680800-75683800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr16:75680800-75683800	Active TSS	Small Intestine	intestine
38	chr16:75680800-75683800	Active TSS	Stomach Smooth Muscle	stomach
39	chr16:75680800-75684000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:75680800-75684000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr16:75680800-75684000	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr16:75680800-75684000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr16:75680800-75684000	Active TSS	Aorta	Aorta
44	chr16:75680800-75684000	Active TSS	Colon Smooth Muscle	Colon
45	chr16:75680800-75684000	Active TSS	Fetal Thymus	thymus
46	chr16:75680800-75684000	Active TSS	Gastric	stomach
47	chr16:75680800-75684000	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr16:75680800-75684200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:75680800-75684200	Active TSS	Primary T cells fromperipheralblood	blood
50	chr16:75680800-75684200	Active TSS	Esophagus	oesophagus

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