Variant report

Variant	rs556776424
Chromosome Location	chr16:71917757-71917758
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	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	CTCF	chr16:71917740-71917890	HFF-Myc	foreskin:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
4	CTCF	chr16:71917680-71917830	HepG2	liver:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
5	ZNF143	chr16:71917621-71918497	K562	blood:	n/a	chr16:71918056-71918066 chr16:71918130-71918140
6	CTCF	chr16:71917685-71917837	MCF-7	breast:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
7	ZBTB7A	chr16:71917609-71917871	HepG2	liver:	n/a	chr16:71917750-71917759
8	RAD21	chr16:71917512-71918114	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr16:71917681-71917812	HepG2	liver:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
10	CTCF	chr16:71917680-71917830	GM12868	blood:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
11	CTCF	chr16:71917645-71917889	GM12891	blood:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
12	CTCF	chr16:71917695-71917818	Kidney_OC	kidney:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
13	RAD21	chr16:71917644-71918125	K562	blood:	n/a	n/a
14	ETS1	chr16:71917722-71918276	K562	blood:	n/a	chr16:71918123-71918134
15	YY1	chr16:71917564-71918579	HepG2	liver:	n/a	chr16:71917670-71917681 chr16:71917628-71917639 chr16:71918045-71918055 chr16:71918044-71918052 chr16:71918033-71918055
16	CTCF	chr16:71917653-71918091	Fibrobl	skin:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
17	POLR2A	chr16:71916890-71918799	H1-neurons	neurons:	n/a	n/a
18	CTCF	chr16:71917620-71917770	HA-sp	spinal cord:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
19	CTCF	chr16:71917660-71917810	HCT-116	colon:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
20	CTCF	chr16:71917680-71917830	HRPEpiC	eye:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
21	CTCF	chr16:71917680-71917830	GM12866	blood:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
22	POLR2A	chr16:71917587-71918297	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr16:71917660-71917810	A549	lung:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
24	POLR2A	chr16:71917749-71918291	HCT-116	colon:	n/a	n/a
25	YY1	chr16:71917698-71918296	ECC-1	luminal epithelium:	n/a	chr16:71918045-71918055 chr16:71918044-71918052 chr16:71918033-71918055
26	CTCF	chr16:71917446-71918174	K562	blood:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
27	RAD21	chr16:71917609-71918209	HepG2	liver:	n/a	n/a
28	CTCF	chr16:71917669-71917847	A549	lung:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
29	CTBP2	chr16:71917725-71918726	H1-hESC	embryonic stem cell:	n/a	n/a
30	PML	chr16:71917742-71918695	GM12878	blood:	n/a	n/a
31	CTCF	chr16:71917644-71918091	GM19238	blood:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
32	CTCF	chr16:71917700-71917850	RPTEC	kidney:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
33	YY1	chr16:71917606-71918290	SK-N-SH_RA	brain:	n/a	chr16:71917670-71917681 chr16:71917628-71917639 chr16:71918045-71918055 chr16:71918044-71918052 chr16:71918033-71918055
34	TAF1	chr16:71916835-71918785	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr16:71916839-71918754	H1-neurons	neurons:	n/a	n/a
36	CTCF	chr16:71917700-71917850	GM12869	blood:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
37	ZBTB7A	chr16:71916839-71918759	ECC-1	luminal epithelium:	n/a	chr16:71917750-71917759
38	RAD21	chr16:71917652-71917840	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr16:71917652-71918380	H1-hESC	embryonic stem cell:	n/a	chr16:71917670-71917681 chr16:71918045-71918055 chr16:71918044-71918052 chr16:71918033-71918055
40	CTCF	chr16:71917660-71917824	ProgFib	skin:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
41	MAX	chr16:71917584-71918799	A549	lung:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71918283-71918293
42	POLR2A	chr16:71917390-71918377	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr16:71917640-71917790	Hela-S3	cervix:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
44	CTCF	chr16:71917660-71917810	GM12873	blood:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
45	CTCF	chr16:71917680-71917830	GM12865	blood:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
46	CTCF	chr16:71917662-71917835	MCF-7	breast:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
47	CTCF	chr16:71917680-71917830	MCF-7	breast:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
48	HMGN3	chr16:71917239-71918581	K562	blood:	n/a	n/a
49	CTCF	chr16:71917700-71917850	HVMF	connective:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
50	POLR2A	chr16:71916952-71918603	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71660779..71663588-chr16:71917487..71919954,2	MCF-7	breast:
2	chr16:71879026..71881212-chr16:71914841..71917763,3	MCF-7	breast:
3	chr16:71912441..71914997-chr16:71916463..71919857,4	K562	blood:
4	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:
5	chr16:71841119..71843508-chr16:71916755..71918312,2	K562	blood:
6	chr16:71913427..71915836-chr16:71916588..71919509,4	K562	blood:
7	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
8	chr16:71879784..71882644-chr16:71915890..71918554,5	K562	blood:
9	chr16:71917025..71919213-chr20:46129079..46131183,2	MCF-7	breast:
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	chr16:71916483..71919796-chr16:71926616..71929598,5	K562	blood:
15	chr16:71879784..71882644-chr16:71915005..71918554,5	K562	blood:
16	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:
17	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:

Variant related genes	Relation type
IST1	TF binding region
ZNF821	TF binding region
ENSG00000261765	TF binding region
ENSG00000140832	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000040199	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	chr16:71916400-71917800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:71916400-71918800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:71916400-71919000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr16:71916600-71918600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr16:71916600-71918800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:71916600-71918800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:71916600-71918800	Active TSS	Esophagus	oesophagus
10	chr16:71916600-71918800	Active TSS	HSMMtube	muscle
11	chr16:71916800-71918400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:71916800-71918400	Active TSS	Fetal Muscle Trunk	muscle
13	chr16:71916800-71918600	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr16:71916800-71918600	Active TSS	Small Intestine	intestine
15	chr16:71916800-71918800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:71916800-71918800	Active TSS	Aorta	Aorta
17	chr16:71916800-71918800	Active TSS	Right Atrium	heart
18	chr16:71916800-71918800	Active TSS	Right Ventricle	heart
19	chr16:71917000-71917800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:71917000-71918600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:71917000-71918600	Active TSS	Lung	lung
22	chr16:71917000-71918600	Active TSS	Pancreas	Pancrea
23	chr16:71917000-71918600	Active TSS	Spleen	Spleen
24	chr16:71917000-71918800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr16:71917000-71918800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:71917000-71918800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr16:71917000-71918800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr16:71917000-71918800	Active TSS	Ovary	ovary
29	chr16:71917000-71919000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr16:71917000-71919200	Active TSS	Brain Anterior Caudate	brain
31	chr16:71917000-71919200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr16:71917200-71918600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:71917200-71918600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:71917200-71918600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:71917200-71918600	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr16:71917200-71918600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr16:71917200-71918600	Active TSS	Gastric	stomach
38	chr16:71917200-71918600	Active TSS	A549	lung
39	chr16:71917200-71918600	Active TSS	NHLF	lung
40	chr16:71917200-71918800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr16:71917200-71918800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr16:71917200-71918800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:71917200-71918800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr16:71917200-71918800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr16:71917200-71918800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:71917200-71918800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:71917200-71918800	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr16:71917200-71918800	Active TSS	Fetal Lung	lung
49	chr16:71917200-71918800	Active TSS	NHDF-Ad	bronchial
50	chr16:71917200-71919000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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