Variant report

Variant	rs113832320
Chromosome Location	chr19:56821165-56821166
allele	C/G/T
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	CTCF	chr19:56821060-56821210	AG10803	skin:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
2	ZNF143	chr19:56820937-56821291	GM12878	blood:	n/a	chr19:56821142-56821152 chr19:56821170-56821180 chr19:56821143-56821153
3	CTCF	chr19:56820831-56821478	K562	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
4	CTCF	chr19:56821040-56821190	AG09319	gingival:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
5	CTCF	chr19:56820964-56821222	A549	lung:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
6	CTCF	chr19:56821003-56821257	GM13976	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
7	GTF2F1	chr19:56820943-56821317	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr19:56821080-56821230	NHEK	skin:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
9	CTCF	chr19:56821040-56821190	GM12869	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
10	MAX	chr19:56820975-56821200	K562	blood:	n/a	n/a
11	RAD21	chr19:56820899-56821378	H1-hESC	embryonic stem cell:	n/a	chr19:56821107-56821114 chr19:56821101-56821115 chr19:56821103-56821112 chr19:56821097-56821116
12	CTCF	chr19:56821080-56821230	AoAF	blood vessel:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
13	CTCF	chr19:56821040-56821190	HRPEpiC	eye:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
14	RAD21	chr19:56820934-56821310	ECC-1	luminal epithelium:	n/a	chr19:56821107-56821114 chr19:56821101-56821115 chr19:56821103-56821112 chr19:56821097-56821116
15	CTCF	chr19:56821060-56821210	HVMF	connective:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
16	CTCF	chr19:56820865-56821361	H1-hESC	embryonic stem cell:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
17	SPI1	chr19:56820949-56821242	GM12878	blood:	n/a	chr19:56821080-56821093
18	MYC	chr19:56821020-56821169	MCF-7	breast:	n/a	n/a
19	CTCF	chr19:56821040-56821190	Hela-S3	cervix:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
20	CTCF	chr19:56821040-56821190	NHDF-neo	bronchial:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
21	CTCF	chr19:56821060-56821210	HMEC	breast:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
22	SMC3	chr19:56820842-56821528	SK-N-SH	brain:	n/a	chr19:56821101-56821115
23	CTCF	chr19:56821080-56821230	GM12872	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
24	ZNF143	chr19:56820935-56821358	H1-hESC	embryonic stem cell:	n/a	chr19:56821142-56821152 chr19:56821170-56821180 chr19:56821143-56821153
25	CTCF	chr19:56821100-56821250	NB4	blood:	n/a	chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
26	CTCF	chr19:56821020-56821170	HPF	lung:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
27	CTCF	chr19:56820962-56821315	H1-hESC	embryonic stem cell:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
28	CTCF	chr19:56820935-56821327	GM12891	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
29	CTCF	chr19:56820920-56821349	IMR90	lung:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
30	CTCF	chr19:56821020-56821170	Caco-2	colon:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
31	NR2F2	chr19:56820970-56821278	K562	blood:	n/a	n/a
32	RAD21	chr19:56820946-56821323	HepG2	liver:	n/a	chr19:56821107-56821114 chr19:56821101-56821115 chr19:56821103-56821112 chr19:56821097-56821116
33	MAX	chr19:56821003-56821269	K562	blood:	n/a	n/a
34	CTCF	chr19:56820647-56821560	A549	lung:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
35	CTCF	chr19:56821060-56821210	GM12873	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
36	CTCF	chr19:56820948-56821334	GM12892	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
37	CTCF	chr19:56821080-56821230	HCFaa	heart:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
38	JUND	chr19:56820999-56821187	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr19:56821060-56821210	HEK293	kidney:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
40	CTCF	chr19:56821060-56821210	HMF	breast:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
41	CTCF	chr19:56821015-56821253	Kidney_OC	kidney:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
42	ZNF143	chr19:56820990-56821319	Hela-S3	cervix:	n/a	chr19:56821142-56821152 chr19:56821170-56821180 chr19:56821143-56821153
43	ELF1	chr19:56820797-56821314	K562	blood:	n/a	chr19:56821013-56821026
44	GABPA	chr19:56820941-56821368	K562	blood:	n/a	n/a
45	UBTF	chr19:56821039-56821176	K562	blood:	n/a	n/a
46	SIN3A	chr19:56820875-56821273	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr19:56821080-56821230	GM12868	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
48	CTCF	chr19:56821060-56821210	AG04449	skin:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
49	SMC3	chr19:56820902-56821365	K562	blood:	n/a	chr19:56821101-56821115
50	CTCF	chr19:56821060-56821210	BE2_C	brain:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114

No.	Distal block	Cell Line	Cell type
1	chr19:56764916..56765950-chr19:56820818..56821640,4	MCF-7	breast:
2	chr19:56772426..56773119-chr19:56820978..56821526,2	MCF-7	breast:
3	chr19:56629872..56632038-chr19:56819906..56821500,2	MCF-7	breast:
4	chr19:56588380..56589352-chr19:56820676..56821212,2	MCF-7	breast:
5	chr19:56820844..56821652-chr19:56844543..56845280,2	MCF-7	breast:
6	chr19:56777096..56779331-chr19:56819751..56822246,2	MCF-7	breast:
7	chr19:56819466..56823348-chr19:56824038..56827318,8	MCF-7	breast:
8	chr19:56577530..56578455-chr19:56820635..56821533,4	MCF-7	breast:
9	chr19:56631633..56633507-chr19:56820271..56822769,2	MCF-7	breast:
10	chr19:56766124..56767037-chr19:56820605..56821442,2	MCF-7	breast:
11	chr19:56817144..56823532-chr19:56823653..56827077,7	K562	blood:
12	chr19:56587513..56588027-chr19:56820710..56821536,2	MCF-7	breast:
13	chr19:56731454..56732253-chr19:56820726..56821606,2	MCF-7	breast:
14	chr19:56821112..56821613-chr19:56861782..56862434,2	K562	blood:
15	chr19:56811881..56813231-chr19:56820624..56821581,3	K562	blood:
16	chr19:56820673..56821653-chr19:56844611..56845545,7	MCF-7	breast:
17	chr19:56813348..56817518-chr19:56818842..56822529,5	K562	blood:
18	chr19:56587780..56588309-chr19:56820859..56821642,2	MCF-7	breast:
19	chr19:56764814..56765752-chr19:56820274..56821276,4	K562	blood:
20	chr19:56764396..56765751-chr19:56820601..56821654,11	MCF-7	breast:
21	chr19:56815074..56816909-chr19:56819293..56822091,2	K562	blood:
22	chr11:118560524..118561488-chr19:56820849..56821521,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267549	TF binding region
ENSG00000267298	Chromatin interaction
ENSG00000255239	Chromatin interaction
ENSG00000131848	Chromatin interaction
ENSG00000267522	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000267710	Chromatin interaction
ENSG00000267549	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
4	nsv526325	chr19:56741186-56852035	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv912517	chr19:56794645-56822466	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1058026	chr19:56799847-56833153	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv1067261	chr19:56820571-56854916	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56772800-56824200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:56782800-56825200	Weak transcription	Psoas Muscle	Psoas
3	chr19:56783000-56825000	Weak transcription	Stomach Mucosa	stomach
4	chr19:56785400-56823600	Weak transcription	Osteobl	bone
5	chr19:56788200-56824400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:56789000-56823800	Weak transcription	Brain Angular Gyrus	brain
7	chr19:56799800-56825200	Weak transcription	Right Atrium	heart
8	chr19:56802400-56821800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr19:56803000-56824200	Weak transcription	Fetal Thymus	thymus
10	chr19:56803200-56825000	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:56804400-56825000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:56804600-56825000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:56805200-56825400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:56806000-56825000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:56806400-56825200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:56806400-56825200	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:56806400-56825200	Weak transcription	NH-A	brain
18	chr19:56806600-56825000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:56807000-56825200	Weak transcription	NHLF	lung
20	chr19:56807600-56823800	Weak transcription	GM12878-XiMat	blood
21	chr19:56807800-56825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:56807800-56825200	Weak transcription	Brain Germinal Matrix	brain
23	chr19:56807800-56825200	Weak transcription	Colonic Mucosa	Colon
24	chr19:56807800-56825200	Weak transcription	Esophagus	oesophagus
25	chr19:56808200-56821400	Weak transcription	Fetal Intestine Large	intestine
26	chr19:56808200-56825000	Weak transcription	HMEC	breast
27	chr19:56810000-56825200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:56813200-56822000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:56813600-56821600	Weak transcription	Aorta	Aorta
30	chr19:56813600-56822200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr19:56813600-56825000	Weak transcription	Fetal Heart	heart
32	chr19:56813600-56825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:56813600-56825200	Weak transcription	Left Ventricle	heart
34	chr19:56813800-56825000	Weak transcription	HUVEC	blood vessel
35	chr19:56814000-56825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:56814200-56825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:56814200-56825200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:56814400-56824800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr19:56814400-56825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr19:56814400-56825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:56814400-56825200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:56814400-56825400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:56814600-56823600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr19:56814600-56825000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:56815400-56822600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:56815400-56825000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:56815600-56821600	Weak transcription	NHEK	skin
48	chr19:56815600-56825000	Weak transcription	HSMMtube	muscle
49	chr19:56815600-56825200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:56816000-56821200	Weak transcription	H1 Cell Line	embryonic stem cell

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