Variant report

Variant	rs77136185
Chromosome Location	chr19:55894946-55894947
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr19:55894877-55895980	Hela-S3	cervix:	n/a	chr19:55895720-55895731 chr19:55895748-55895763 chr19:55895747-55895758
2	POLR2A	chr19:55894752-55898253	MCF-7	breast:	n/a	n/a
3	POLR2A	chr19:55894809-55904996	Hela-S3	cervix:	n/a	n/a
4	TCF12	chr19:55893884-55895026	A549	lung:	n/a	n/a
5	MAX	chr19:55894847-55895636	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr19:55894820-55895772	GM12878	blood:	n/a	n/a
7	CTCF	chr19:55894888-55895554	IMR90	lung:	n/a	n/a
8	CTCF	chr19:55894754-55895772	SK-N-SH	brain:	n/a	n/a
9	YY1	chr19:55894814-55895146	K562	blood:	n/a	n/a
10	CTCF	chr19:55894800-55894950	Caco-2	colon:	n/a	n/a
11	POLR2A	chr19:55894933-55899226	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr19:55894841-55904473	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:55894888-55898899	HCT-116	colon:	n/a	n/a
14	CTCF	chr19:55894800-55894950	HMEC	breast:	n/a	n/a
15	MAX	chr19:55894763-55896062	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr19:55894940-55896126	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr19:55894864-55896287	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:55894856-55898584	GM19099	blood:	n/a	n/a
19	E2F6	chr19:55894919-55895651	A549	lung:	n/a	n/a
20	ELF1	chr19:55894941-55895488	K562	blood:	n/a	n/a
21	ZBTB7A	chr19:55894753-55894978	K562	blood:	n/a	n/a
22	POLR2A	chr19:55894941-55898566	GM19193	blood:	n/a	n/a
23	CTCF	chr19:55894840-55894990	HEEpiC	esophagus:	n/a	n/a
24	POLR2A	chr19:55894772-55895887	GM12878	blood:	n/a	n/a
25	YY1	chr19:55894781-55895071	A549	lung:	n/a	n/a
26	MAX	chr19:55894805-55898322	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr19:55894860-55895010	NHEK	skin:	n/a	n/a
28	CTCF	chr19:55894900-55895050	AG04449	skin:	n/a	n/a
29	UBTF	chr19:55894748-55898127	K562	blood:	n/a	n/a
30	HCFC1	chr19:55894746-55898950	Hela-S3	cervix:	n/a	n/a
31	RUNX3	chr19:55894718-55895074	GM12878	blood:	n/a	chr19:55894912-55894929
32	POLR2A	chr19:55894824-55895047	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:55894561-55904659	K562	blood:	n/a	n/a
34	CHD2	chr19:55894820-55895526	K562	blood:	n/a	n/a
35	E2F6	chr19:55894728-55897484	K562	blood:	n/a	chr19:55895748-55895763
36	POLR2A	chr19:55894945-55897764	K562	blood:	n/a	n/a
37	POLR2A	chr19:55894840-55903086	K562	blood:	n/a	n/a
38	POLR2A	chr19:55894680-55903724	Hela-S3	cervix:	n/a	n/a
39	YY1	chr19:55894751-55895808	GM12878	blood:	n/a	chr19:55895635-55895646
40	CTCF	chr19:55894840-55894990	K562	blood:	n/a	n/a
41	E2F1	chr19:55894788-55895950	Hela-S3	cervix:	n/a	chr19:55895720-55895731 chr19:55895748-55895763 chr19:55895747-55895758
42	MAX	chr19:55894803-55895882	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:55894841-55898289	GM18526	blood:	n/a	n/a
44	RAD21	chr19:55894842-55895467	Hela-S3	cervix:	n/a	n/a
45	MAX	chr19:55894926-55898144	MCF-7	breast:	n/a	n/a
46	RAD21	chr19:55894758-55895827	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr19:55894800-55894950	GM12873	blood:	n/a	n/a
48	CTCF	chr19:55894800-55894950	BJ	skin:	n/a	n/a
49	MYC	chr19:55894742-55897944	K562	blood:	n/a	n/a
50	SMC3	chr19:55894815-55898218	Hela-S3	cervix:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55676207..55678218-chr19:55894877..55897476,2	MCF-7	breast:
2	chr19:55894730..55901388-chr19:55970612..55975937,9	K562	blood:
3	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:
4	chr19:55811782..55819446-chr19:55894353..55900958,7	K562	blood:
5	chr19:55894504..55900051-chr19:55962971..55968155,6	K562	blood:
6	chr19:55894386..55898784-chr19:55971378..55974677,5	MCF-7	breast:
7	chr19:55764902..55773441-chr19:55891413..55900303,21	K562	blood:
8	chr19:55724006..55730191-chr19:55893749..55903961,17	K562	blood:
9	chr19:55894940..55895473-chr9:130331490..130332126,2	Hela-S3	cervix:
10	chr19:55774813..55777090-chr19:55892887..55895596,2	MCF-7	breast:
11	chr19:55767441..55773483-chr19:55893952..55900251,14	MCF-7	breast:
12	chr19:55848515..55857343-chr19:55894079..55900232,19	MCF-7	breast:
13	chr19:55688311..55691062-chr19:55894842..55896433,2	MCF-7	breast:
14	chr19:55660000..55662027-chr19:55893629..55896601,2	MCF-7	breast:
15	chr19:55673897..55675427-chr19:55894913..55897394,2	MCF-7	breast:
16	chr19:55854922..55862011-chr19:55892906..55898744,13	MCF-7	breast:
17	chr19:55763551..55774813-chr19:55891413..55900376,23	K562	blood:
18	chr19:55893657..55895479-chr19:55950087..55951998,2	MCF-7	breast:
19	chr19:55790016..55797764-chr19:55893451..55899813,15	MCF-7	breast:
20	chr19:55894932..55897598-chr19:56114798..56116891,2	MCF-7	breast:
21	chr19:55848915..55854876-chr19:55892600..55899757,13	MCF-7	breast:
22	chr19:55675848..55678136-chr19:55894504..55899983,4	K562	blood:
23	chr19:55894527..55896497-chr19:56163809..56165981,2	K562	blood:
24	chr19:55813132..55813839-chr19:55894893..55895437,2	MCF-7	breast:
25	chr19:55723570..55724132-chr19:55894803..55895320,2	K562	blood:
26	chr19:55669654..55671920-chr19:55893818..55896729,2	MCF-7	breast:
27	chr19:55894292..55897074-chr19:56152142..56154833,2	MCF-7	breast:
28	chr19:55723904..55730206-chr19:55894141..55899052,9	MCF-7	breast:
29	chr19:55863669..55866367-chr19:55893657..55895581,3	MCF-7	breast:
30	chr19:55808885..55818962-chr19:55893792..55900928,16	MCF-7	breast:
31	chr19:55847613..55856135-chr19:55893756..55900268,15	K562	blood:

No data

Variant related genes	Relation type
RPL28	TF binding region
ENSG00000267577	Chromatin interaction
ENSG00000105048	Chromatin interaction
ENSG00000160471	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000129990	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000063241	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
4	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
5	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
6	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
10	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
11	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
12	nsv516199	chr19:55854313-55901099	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
13	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
14	nsv912470	chr19:55872591-55897170	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	79 gene(s)	inside rSNPs	diseases
15	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
16	nsv544085	chr19:55875808-55911275	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
17	nsv912476	chr19:55876747-55897327	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	91 gene(s)	inside rSNPs	diseases
18	esv3354937	chr19:55894165-55896713	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases
19	esv3329074	chr19:55894565-55896613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55893600-55895000	Flanking Active TSS	Dnd41	blood
2	chr19:55893600-55895200	Enhancers	Fetal Brain Male	brain
3	chr19:55893600-55895200	Enhancers	Spleen	Spleen
4	chr19:55894200-55895000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr19:55894200-55895000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr19:55894200-55895000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:55894200-55895000	Flanking Active TSS	Colonic Mucosa	Colon
8	chr19:55894200-55895000	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr19:55894200-55895000	Flanking Active TSS	GM12878-XiMat	blood
10	chr19:55894200-55895000	Flanking Active TSS	K562	blood
11	chr19:55894200-55895200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:55894200-55895600	Active TSS	Fetal Kidney	kidney
13	chr19:55894400-55895000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:55894400-55895000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr19:55894400-55895000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:55894400-55895000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:55894400-55895000	Flanking Active TSS	Fetal Thymus	thymus
18	chr19:55894400-55895000	Flanking Active TSS	Pancreas	Pancrea
19	chr19:55894400-55895000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr19:55894400-55897400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr19:55894600-55895000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:55894600-55895000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:55894600-55895000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr19:55894600-55895000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:55894600-55895000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr19:55894600-55895000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr19:55894600-55895000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr19:55894600-55895000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:55894600-55895000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr19:55894600-55895000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr19:55894600-55895000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr19:55894600-55895000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:55894600-55895000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:55894600-55895000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:55894600-55895000	Flanking Active TSS	Liver	Liver
36	chr19:55894600-55895000	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr19:55894600-55895000	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr19:55894600-55895000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr19:55894600-55895000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:55894600-55895000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr19:55894600-55895000	Flanking Active TSS	Esophagus	oesophagus
42	chr19:55894600-55895000	Flanking Active TSS	Fetal Brain Female	brain
43	chr19:55894600-55895000	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr19:55894600-55895000	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr19:55894600-55895000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr19:55894600-55895000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr19:55894600-55895000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr19:55894600-55895000	Flanking Active TSS	Thymus	Thymus
49	chr19:55894600-55895000	Flanking Active TSS	A549	lung
50	chr19:55894600-55895000	Flanking Active TSS	HMEC	breast

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