Variant report

Variant	rs73509783
Chromosome Location	chr16:11946352-11946353
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	SIN3AK20	chr16:11944586-11946428	MCF-7	breast:	n/a	n/a
2	MAZ	chr16:11944786-11946466	IMR90	lung:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
3	GABPA	chr16:11944791-11946415	MCF-7	breast:	n/a	chr16:11945420-11945434 chr16:11945423-11945432 chr16:11945565-11945572 chr16:11945423-11945434
4	SIN3AK20	chr16:11944957-11946381	PANC-1	pancreas:	n/a	n/a
5	FOXA1	chr16:11945698-11946535	HepG2	liver:	n/a	n/a
6	HEY1	chr16:11944764-11946403	HepG2	liver:	n/a	n/a
7	MAX	chr16:11946329-11946581	K562	blood:	n/a	n/a
8	MYC	chr16:11944807-11946606	K562	blood:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
9	MAX	chr16:11944830-11946638	NB4	blood:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
10	MAX	chr16:11944750-11946650	K562	blood:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
11	CREB1	chr16:11944768-11946412	HepG2	liver:	n/a	n/a
12	FOXA1	chr16:11945695-11946452	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:11944457-11946650	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr16:11946049-11946362	T-47D	breast:	n/a	n/a
15	MXI1	chr16:11943880-11946788	SK-N-SH	brain:	n/a	chr16:11945100-11945109 chr16:11945769-11945778
16	MAX	chr16:11944772-11946642	HepG2	liver:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
17	MYBL2	chr16:11944728-11946428	HepG2	liver:	n/a	n/a
18	FOXA1	chr16:11945936-11946515	HepG2	liver:	n/a	n/a
19	MAX	chr16:11944810-11946411	MCF-7	breast:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
20	ESRRA	chr16:11944743-11946895	GM12878	blood:	n/a	n/a
21	MYC	chr16:11944424-11946597	K562	blood:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
22	POLR2A	chr16:11944494-11946695	K562	blood:	n/a	n/a
23	MYC	chr16:11944820-11946655	NB4	blood:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
24	MXI1	chr16:11943898-11946813	IMR90	lung:	n/a	chr16:11945100-11945109 chr16:11945769-11945778
25	SREBP2	chr16:11944607-11946420	GM12878	blood:	n/a	n/a
26	MYC	chr16:11944744-11946407	A549	lung:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
27	TEAD4	chr16:11944969-11946460	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:11944832-11946415	HL-60	blood:	n/a	n/a
29	MAX	chr16:11944852-11946510	K562	blood:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
30	MYC	chr16:11944781-11946518	K562	blood:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
31	MYBL2	chr16:11944712-11946503	HepG2	liver:	n/a	n/a
32	TEAD4	chr16:11944830-11946418	K562	blood:	n/a	n/a
33	MAX	chr16:11944760-11946562	HepG2	liver:	n/a	chr16:11945727-11945736 chr16:11945935-11945945 chr16:11945456-11945466
34	MBD4	chr16:11944776-11946390	HepG2	liver:	n/a	n/a
35	MXI1	chr16:11944815-11946502	HepG2	liver:	n/a	chr16:11945100-11945109 chr16:11945769-11945778
36	CHD1	chr16:11944787-11946707	IMR90	lung:	n/a	n/a
37	FOXA1	chr16:11945923-11946424	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:11944703-11946371	HepG2	liver:	n/a	n/a
39	CTCF	chr16:11946320-11946470	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:11944315..11946480-chr16:12008232..12011350,3	K562	blood:
2	chr16:11891005..11893828-chr16:11944573..11948679,5	MCF-7	breast:
3	chr16:11889197..11895021-chr16:11943442..11946851,6	K562	blood:
4	chr16:11945202..11946733-chr16:11979732..11982221,2	MCF-7	breast:
5	chr16:11888083..11891789-chr16:11945035..11947357,4	MCF-7	breast:
6	chr16:11888587..11890697-chr16:11945351..11946872,2	K562	blood:
7	chr16:11941713..11946689-chr16:12006948..12011249,6	MCF-7	breast:
8	chr16:11919719..11922713-chr16:11945329..11947052,3	MCF-7	breast:
9	chr16:11945470..11946395-chr5:148724471..148725330,2	Hela-S3	cervix:
10	chr16:11936442..11940721-chr16:11941344..11946764,13	K562	blood:
11	chr16:11874839..11876842-chr16:11943852..11946760,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFRSF17-2	chr16:11945444-11947546	NONHSAT140600

Variant related genes	Relation type
RSL1D1	TF binding region
ENSG00000122299	Chromatin interaction
ENSG00000103342	Chromatin interaction
ENSG00000266163	Chromatin interaction
ENSG00000164284	Chromatin interaction
ENSG00000171490	Chromatin interaction
ENSG00000262117	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10492766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958698	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2022093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57309246	1.00[EUR][1000 genomes]
rs58472329	0.95[AFR][1000 genomes]
rs59148688	1.00[EUR][1000 genomes]
rs59403008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60578760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60924385	1.00[EUR][1000 genomes]
rs61602378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73509774	0.95[AFR][1000 genomes]
rs73511609	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73511658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73513607	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482288	chr16:11776491-11946429	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS 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	54 gene(s)	inside rSNPs	diseases
2	nsv1043909	chr16:11839910-12007435	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:11943800-11946400	Active TSS	HMEC	breast
2	chr16:11943800-11946600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:11944000-11946400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr16:11944000-11946400	Active TSS	Fetal Brain Female	brain
5	chr16:11944000-11946400	Active TSS	NHLF	lung
6	chr16:11944000-11946600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr16:11944000-11946600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr16:11944000-11946600	Active TSS	Psoas Muscle	Psoas
9	chr16:11944200-11946400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr16:11944200-11946400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr16:11944200-11946400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:11944200-11946400	Active TSS	Ovary	ovary
13	chr16:11944200-11946600	Active TSS	HSMM	muscle
14	chr16:11944200-11946800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr16:11944200-11946800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr16:11944200-11946800	Active TSS	GM12878-XiMat	blood
17	chr16:11944200-11947200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:11944400-11946400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:11944400-11946400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:11944400-11946400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr16:11944400-11946400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr16:11944400-11946400	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr16:11944400-11946400	Active TSS	Esophagus	oesophagus
24	chr16:11944400-11946400	Active TSS	Fetal Kidney	kidney
25	chr16:11944400-11946400	Bivalent/Poised TSS	HepG2	liver
26	chr16:11944400-11946400	Active TSS	HSMMtube	muscle
27	chr16:11944400-11946400	Active TSS	NHDF-Ad	bronchial
28	chr16:11944400-11946400	Active TSS	NHEK	skin
29	chr16:11944400-11946600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:11944400-11946600	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr16:11944400-11946600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:11944400-11946600	Active TSS	A549	lung
33	chr16:11944600-11946400	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr16:11944600-11946400	Active TSS	Brain Angular Gyrus	brain
35	chr16:11944600-11946400	Active TSS	Brain Cingulate Gyrus	brain
36	chr16:11944600-11946400	Active TSS	Colon Smooth Muscle	Colon
37	chr16:11944600-11946400	Active TSS	Gastric	stomach
38	chr16:11944600-11946400	Active TSS	Rectal Smooth Muscle	rectum
39	chr16:11944600-11946400	Active TSS	Stomach Mucosa	stomach
40	chr16:11944600-11946600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr16:11944600-11947000	Active TSS	K562	blood
42	chr16:11945400-11946600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr16:11945600-11946400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr16:11945600-11946600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr16:11945600-11946600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr16:11945600-11946600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:11945600-11946600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr16:11945600-11946600	Active TSS	Right Atrium	heart
49	chr16:11945600-11946600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr16:11945600-11946800	Flanking Active TSS	Primary T cells from cord blood	blood

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