Variant report

Variant	rs530580927
Chromosome Location	chr16:71918304-71918305
allele	C/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	MAZ	chr16:71917680-71918485	Hela-S3	cervix:	n/a	chr16:71918180-71918190 chr16:71918283-71918293
2	MAX	chr16:71917295-71918780	HepG2	liver:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71917463-71917472 chr16:71918283-71918293
3	POLR2A	chr16:71917792-71918517	HepG2	liver:	n/a	n/a
4	ZNF143	chr16:71917621-71918497	K562	blood:	n/a	chr16:71918056-71918066 chr16:71918130-71918140
5	POLR2A	chr16:71918178-71918378	HepG2	liver:	n/a	n/a
6	YY1	chr16:71917564-71918579	HepG2	liver:	n/a	chr16:71917670-71917681 chr16:71917628-71917639 chr16:71918045-71918055 chr16:71918044-71918052 chr16:71918033-71918055
7	SP1	chr16:71917947-71918629	H1-hESC	embryonic stem cell:	n/a	chr16:71918283-71918294 chr16:71918179-71918191 chr16:71918176-71918190 chr16:71918123-71918132 chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918181-71918190 chr16:71918180-71918190 chr16:71918569-71918581 chr16:71918116-71918130 chr16:71918569-71918581 chr16:71918180-71918189 chr16:71918372-71918381 chr16:71918179-71918191
8	POLR2A	chr16:71917876-71918377	MCF-7	breast:	n/a	n/a
9	STAT5A	chr16:71917991-71918658	GM12878	blood:	n/a	chr16:71918285-71918297 chr16:71918120-71918132 chr16:71918112-71918124 chr16:71918118-71918130
10	POLR2A	chr16:71916890-71918799	H1-neurons	neurons:	n/a	n/a
11	MYC	chr16:71918027-71918340	H1-hESC	embryonic stem cell:	n/a	chr16:71918180-71918190 chr16:71918283-71918293
12	POLR2A	chr16:71918248-71918626	HL-60	blood:	n/a	n/a
13	CHD1	chr16:71917820-71918559	GM12878	blood:	n/a	n/a
14	CEBPD	chr16:71917765-71918504	HepG2	liver:	n/a	n/a
15	CTBP2	chr16:71917725-71918726	H1-hESC	embryonic stem cell:	n/a	n/a
16	PML	chr16:71917742-71918695	GM12878	blood:	n/a	n/a
17	SP4	chr16:71917789-71918513	H1-hESC	embryonic stem cell:	n/a	chr16:71918283-71918294 chr16:71918177-71918193
18	TAF1	chr16:71916835-71918785	H1-neurons	neurons:	n/a	n/a
19	CREB1	chr16:71917897-71918617	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr16:71917874-71918685	NB4	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
21	POLR2A	chr16:71916839-71918754	H1-neurons	neurons:	n/a	n/a
22	ZBTB7A	chr16:71916839-71918759	ECC-1	luminal epithelium:	n/a	chr16:71917750-71917759
23	YY1	chr16:71917652-71918380	H1-hESC	embryonic stem cell:	n/a	chr16:71917670-71917681 chr16:71918045-71918055 chr16:71918044-71918052 chr16:71918033-71918055
24	MAX	chr16:71917584-71918799	A549	lung:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
25	POLR2A	chr16:71917390-71918377	HUVEC	blood vessel:	n/a	n/a
26	CHD2	chr16:71917863-71918557	H1-hESC	embryonic stem cell:	n/a	n/a
27	HMGN3	chr16:71917239-71918581	K562	blood:	n/a	n/a
28	POLR2A	chr16:71916952-71918603	GM19099	blood:	n/a	n/a
29	POLR2A	chr16:71917813-71918589	MCF-7	breast:	n/a	n/a
30	UBTF	chr16:71917478-71918578	K562	blood:	n/a	n/a
31	MTA3	chr16:71918135-71918703	GM12878	blood:	n/a	n/a
32	ZMIZ1	chr16:71917898-71918584	K562	blood:	n/a	n/a
33	NRF1	chr16:71917576-71918459	SK-N-SH	brain:	n/a	chr16:71918180-71918189 chr16:71918078-71918089 chr16:71918056-71918065
34	POLR2A	chr16:71917693-71918723	SK-N-MC	brain:	n/a	n/a
35	RCOR1	chr16:71917021-71918708	K562	blood:	n/a	n/a
36	FOXM1	chr16:71918222-71918615	GM12878	blood:	n/a	n/a
37	SIN3A	chr16:71917783-71918598	GM12878	blood:	n/a	chr16:71918439-71918447 chr16:71918327-71918338 chr16:71917886-71917899
38	POLR2A	chr16:71917804-71918570	GM18951	blood:	n/a	n/a
39	YY1	chr16:71917293-71918503	GM12878	blood:	n/a	chr16:71917670-71917681 chr16:71917628-71917639 chr16:71918045-71918055 chr16:71917477-71917488 chr16:71918044-71918052 chr16:71918033-71918055
40	YY1	chr16:71917785-71918318	ECC-1	luminal epithelium:	n/a	chr16:71918045-71918055 chr16:71918044-71918052 chr16:71918033-71918055
41	POLR2A	chr16:71917586-71918594	H1-hESC	embryonic stem cell:	n/a	n/a
42	TBL1XR1	chr16:71918010-71918629	GM12878	blood:	n/a	n/a
43	RCOR1	chr16:71917737-71918503	Hela-S3	cervix:	n/a	n/a
44	YY1	chr16:71917324-71918633	GM12892	blood:	n/a	chr16:71917670-71917681 chr16:71917628-71917639 chr16:71918045-71918055 chr16:71917477-71917488 chr16:71918044-71918052 chr16:71918033-71918055
45	POLR2A	chr16:71917697-71918669	GM12892	blood:	n/a	n/a
46	POLR2A	chr16:71917843-71918544	HEK293	kidney:	n/a	n/a
47	MAX	chr16:71917581-71918764	K562	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
48	MYBL2	chr16:71917637-71918512	HepG2	liver:	n/a	n/a
49	ZBTB7A	chr16:71917952-71918485	HepG2	liver:	n/a	n/a
50	TAF1	chr16:71918189-71918432	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71660779..71663588-chr16:71917487..71919954,2	MCF-7	breast:
2	chr16:71912441..71914997-chr16:71916463..71919857,4	K562	blood:
3	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:
4	chr16:71841119..71843508-chr16:71916755..71918312,2	K562	blood:
5	chr16:71913427..71915836-chr16:71916588..71919509,4	K562	blood:
6	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
7	chr16:71879784..71882644-chr16:71915890..71918554,5	K562	blood:
8	chr16:71917025..71919213-chr20:46129079..46131183,2	MCF-7	breast:
9	chr16:71756251..71759040-chr16:71918074..71919809,2	K562	blood:
10	chr16:71840886..71843601-chr16:71915608..71919137,4	MCF-7	breast:
11	chr16:71916310..71918495-chr16:71961448..71964132,2	K562	blood:
12	chr16:71841119..71844188-chr16:71916755..71919955,4	K562	blood:
13	chr16:71916398..71918691-chr16:71923967..71926523,2	K562	blood:
14	chr16:71878397..71880298-chr16:71917810..71919339,2	MCF-7	breast:
15	chr16:71916483..71919796-chr16:71926616..71929598,5	K562	blood:
16	chr16:71879784..71882644-chr16:71915005..71918554,5	K562	blood:
17	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:
18	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:

Variant related genes	Relation type
ENSG00000261765	TF binding region
IST1	TF binding region
ZNF821	TF binding region
ENSG00000124151	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000261513	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS 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	28 gene(s)	inside rSNPs	diseases
4	esv3328027	chr16:71916676-71919424	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71914800-71918800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr16:71916200-71919000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:71916400-71918800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:71916400-71919000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr16:71916600-71918600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr16:71916600-71918800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:71916600-71918800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:71916600-71918800	Active TSS	Esophagus	oesophagus
9	chr16:71916600-71918800	Active TSS	HSMMtube	muscle
10	chr16:71916800-71918400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:71916800-71918400	Active TSS	Fetal Muscle Trunk	muscle
12	chr16:71916800-71918600	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr16:71916800-71918600	Active TSS	Small Intestine	intestine
14	chr16:71916800-71918800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:71916800-71918800	Active TSS	Aorta	Aorta
16	chr16:71916800-71918800	Active TSS	Right Atrium	heart
17	chr16:71916800-71918800	Active TSS	Right Ventricle	heart
18	chr16:71917000-71918600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:71917000-71918600	Active TSS	Lung	lung
20	chr16:71917000-71918600	Active TSS	Pancreas	Pancrea
21	chr16:71917000-71918600	Active TSS	Spleen	Spleen
22	chr16:71917000-71918800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr16:71917000-71918800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr16:71917000-71918800	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr16:71917000-71918800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr16:71917000-71918800	Active TSS	Ovary	ovary
27	chr16:71917000-71919000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr16:71917000-71919200	Active TSS	Brain Anterior Caudate	brain
29	chr16:71917000-71919200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr16:71917200-71918600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:71917200-71918600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:71917200-71918600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:71917200-71918600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr16:71917200-71918600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr16:71917200-71918600	Active TSS	Gastric	stomach
36	chr16:71917200-71918600	Active TSS	A549	lung
37	chr16:71917200-71918600	Active TSS	NHLF	lung
38	chr16:71917200-71918800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr16:71917200-71918800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr16:71917200-71918800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:71917200-71918800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr16:71917200-71918800	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr16:71917200-71918800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:71917200-71918800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:71917200-71918800	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr16:71917200-71918800	Active TSS	Fetal Lung	lung
47	chr16:71917200-71918800	Active TSS	NHDF-Ad	bronchial
48	chr16:71917200-71919000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:71917200-71919200	Active TSS	Brain Angular Gyrus	brain
50	chr16:71917200-71919200	Active TSS	Brain Germinal Matrix	brain

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