Variant report

Variant	rs73615089
Chromosome Location	chr16:75683614-75683615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 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	MAX	chr16:75683595-75683980	K562	blood:	n/a	n/a
4	POLR2A	chr16:75683544-75684046	H1-neurons	neurons:	n/a	n/a
5	WRNIP1	chr16:75682589-75683858	GM12878	blood:	n/a	n/a
6	IRF1	chr16:75683500-75683728	K562	blood:	n/a	n/a
7	POLR2A	chr16:75683486-75683739	GM12891	blood:	n/a	n/a
8	CHD1	chr16:75681210-75683720	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:75680802-75684008	GM12878	blood:	n/a	n/a
10	MYC	chr16:75683610-75683808	MCF10A-Er-Src	breast:	n/a	n/a
11	MXI1	chr16:75680338-75684517	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr16:75683342-75683950	K562	blood:	n/a	n/a
13	ZNF384	chr16:75683282-75683662	GM12878	blood:	n/a	n/a
14	MAX	chr16:75683281-75683951	K562	blood:	n/a	n/a
15	SIN3A	chr16:75683441-75683923	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr16:75680668-75683681	PBDE	blood:	n/a	n/a
17	ZNF384	chr16:75683276-75683913	K562	blood:	n/a	n/a
18	POLR2A	chr16:75680754-75684242	GM12891	blood:	n/a	n/a
19	MXI1	chr16:75680549-75684242	IMR90	lung:	n/a	n/a
20	POLR2A	chr16:75683469-75684010	H1-neurons	neurons:	n/a	n/a
21	REST	chr16:75681014-75684563	H1-neurons	neurons:	n/a	chr16:75681384-75681397 chr16:75682459-75682472
22	MYC	chr16:75683447-75683769	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr16:75683374-75684262	K562	blood:	n/a	n/a
24	POLR2A	chr16:75683327-75683820	GM12878	blood:	n/a	n/a
25	MXI1	chr16:75683148-75683915	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:75683091-75683750	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:75681210-75683783	GM12878	blood:	n/a	n/a

No data

(count:8 , 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	chr16:75509496..75511501-chr16:75683548..75685675,2	K562	blood:
4	chr16:75682807..75685554-chr16:77222359..77225911,3	K562	blood:
5	chr16:75549952..75552218-chr16:75681885..75683701,2	K562	blood:
6	chr16:75284175..75286207-chr16:75680901..75683623,2	MCF-7	breast:
7	chr16:75600704..75602997-chr16:75682775..75685144,2	K562	blood:
8	chr16:75655020..75658877-chr16:75680481..75684905,8	MCF-7	breast:

No data

Variant related genes	Relation type
KARS	TF binding region
ENSG00000203472	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000103111	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10163345	0.83[EUR][1000 genomes]
rs1133766	0.84[EUR][1000 genomes]
rs11546854	0.94[EUR][1000 genomes]
rs11640406	0.84[EUR][1000 genomes]
rs11640743	0.84[EUR][1000 genomes]
rs11641108	0.84[EUR][1000 genomes]
rs11646086	0.84[EUR][1000 genomes]
rs11646574	0.84[EUR][1000 genomes]
rs11648206	0.84[EUR][1000 genomes]
rs11649504	0.84[EUR][1000 genomes]
rs11649505	0.84[EUR][1000 genomes]
rs11649571	0.84[EUR][1000 genomes]
rs11860980	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11862453	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11864677	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11866252	0.94[EUR][1000 genomes]
rs16941008	0.94[EUR][1000 genomes]
rs16942022	1.00[EUR][1000 genomes]
rs16942809	0.89[EUR][1000 genomes]
rs16942870	0.89[EUR][1000 genomes]
rs16943274	0.81[EUR][1000 genomes]
rs16943285	0.81[EUR][1000 genomes]
rs1865492	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991052	0.89[EUR][1000 genomes]
rs2233803	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233805	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233810	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35135836	0.84[EUR][1000 genomes]
rs56892159	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58000098	0.94[EUR][1000 genomes]
rs58657577	0.94[EUR][1000 genomes]
rs58996069	0.94[EUR][1000 genomes]
rs59624897	0.94[EUR][1000 genomes]
rs59794444	0.94[EUR][1000 genomes]
rs60376290	0.98[EUR][1000 genomes]
rs60415088	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60545422	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60664312	0.94[EUR][1000 genomes]
rs61588474	0.94[EUR][1000 genomes]
rs62619985	0.94[EUR][1000 genomes]
rs6834	0.91[EUR][1000 genomes]
rs7186790	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193257	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7195089	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73613267	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73613272	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8051771	0.94[EUR][1000 genomes]
rs9989360	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	chr16:75680600-75683800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr16:75680600-75683800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr16:75680600-75683800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:75680600-75683800	Bivalent/Poised TSS	HepG2	liver
21	chr16:75680600-75684200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr16:75680600-75684200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:75680600-75684800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:75680800-75683800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr16:75680800-75683800	Active TSS	Small Intestine	intestine
26	chr16:75680800-75683800	Active TSS	Stomach Smooth Muscle	stomach
27	chr16:75680800-75684000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:75680800-75684000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr16:75680800-75684000	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr16:75680800-75684000	Active TSS	Muscle Satellite Cultured Cells	--
31	chr16:75680800-75684000	Active TSS	Aorta	Aorta
32	chr16:75680800-75684000	Active TSS	Colon Smooth Muscle	Colon
33	chr16:75680800-75684000	Active TSS	Fetal Thymus	thymus
34	chr16:75680800-75684000	Active TSS	Gastric	stomach
35	chr16:75680800-75684000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr16:75680800-75684200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:75680800-75684200	Active TSS	Primary T cells fromperipheralblood	blood
38	chr16:75680800-75684200	Active TSS	Esophagus	oesophagus
39	chr16:75680800-75684200	Active TSS	Fetal Muscle Trunk	muscle
40	chr16:75680800-75684200	Active TSS	Left Ventricle	heart
41	chr16:75680800-75684200	Active TSS	Lung	lung
42	chr16:75680800-75684200	Active TSS	Pancreas	Pancrea
43	chr16:75680800-75684200	Active TSS	Right Atrium	heart
44	chr16:75680800-75684200	Active TSS	Right Ventricle	heart
45	chr16:75680800-75684400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:75680800-75684400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:75680800-75684400	Active TSS	Fetal Intestine Large	intestine
48	chr16:75680800-75684400	Active TSS	HSMMtube	muscle
49	chr16:75680800-75684600	Active TSS	Fetal Intestine Small	intestine
50	chr16:75680800-75684800	Active TSS	H9 Cell Line	embryonic stem cell

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