Variant report

Variant	rs143100136
Chromosome Location	chr19:55795213-55795214
allele	-/CT
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	ZBTB7A	chr19:55795138-55795666	ECC-1	luminal epithelium:	n/a	chr19:55795563-55795571
2	SP4	chr19:55795198-55795425	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:55795008-55795306	U87	brain:	n/a	n/a
4	MAZ	chr19:55794951-55797382	IMR90	lung:	n/a	chr19:55795773-55795783
5	CREB1	chr19:55795135-55795567	H1-hESC	embryonic stem cell:	n/a	n/a
6	RCOR1	chr19:55795134-55795334	K562	blood:	n/a	n/a
7	TAF1	chr19:55795190-55795458	H1-hESC	embryonic stem cell:	n/a	n/a
8	HDAC2	chr19:55795192-55795445	K562	blood:	n/a	n/a
9	YY1	chr19:55795117-55795371	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr19:55794884-55795375	H1-neurons	neurons:	n/a	n/a
11	ATF2	chr19:55795170-55795467	H1-hESC	embryonic stem cell:	n/a	n/a
12	RCOR1	chr19:55795020-55795454	K562	blood:	n/a	n/a
13	POLR2A	chr19:55794853-55795460	U87	brain:	n/a	n/a
14	POLR2A	chr19:55794893-55795706	H1-neurons	neurons:	n/a	n/a
15	REST	chr19:55794634-55796279	H1-neurons	neurons:	n/a	chr19:55795633-55795653 chr19:55795468-55795481 chr19:55795625-55795638 chr19:55795512-55795525 chr19:55795613-55795626
16	POLR2A	chr19:55794871-55795717	H1-neurons	neurons:	n/a	n/a
17	JUND	chr19:55795209-55795507	K562	blood:	n/a	n/a
18	MAX	chr19:55795164-55795577	SK-N-SH	brain:	n/a	n/a
19	MAZ	chr19:55795101-55795688	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55768870..55771541-chr19:55794018..55795820,2	MCF-7	breast:
2	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:
3	chr19:55793274..55795541-chr19:55812526..55814100,2	MCF-7	breast:
4	chr19:55725965..55728542-chr19:55794758..55796322,2	K562	blood:
5	chr19:55790346..55793216-chr19:55794114..55797002,3	MCF-7	breast:
6	chr19:55794940..55798200-chr19:55895681..55898839,3	K562	blood:
7	chr19:55790016..55797764-chr19:55893451..55899813,15	MCF-7	breast:
8	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:

Variant related genes	Relation type
HSPBP1	TF binding region
BRSK1	TF binding region
ENSG00000108107	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000267649	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv912459	chr19:55791380-55845386	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv3442638	chr19:55794165-55797013	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55791600-55796000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:55791800-55796600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55792400-55795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:55792400-55796800	Weak transcription	Gastric	stomach
5	chr19:55792400-55797000	Weak transcription	Pancreas	Pancrea
6	chr19:55793000-55796400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:55793000-55796600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:55793000-55796800	Weak transcription	Spleen	Spleen
9	chr19:55794000-55796400	Weak transcription	K562	blood
10	chr19:55794400-55796200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:55794800-55795400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:55794800-55795800	Enhancers	Primary hematopoietic stem cells	blood
13	chr19:55794800-55796400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:55794800-55797000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr19:55795000-55795400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:55795000-55795400	Enhancers	Fetal Muscle Trunk	muscle
17	chr19:55795000-55795400	Enhancers	HSMMtube	muscle
18	chr19:55795000-55795800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr19:55795000-55795800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:55795000-55796000	Active TSS	Fetal Brain Female	brain
21	chr19:55795000-55796200	Enhancers	Primary B cells from peripheral blood	blood
22	chr19:55795000-55796200	Active TSS	Colon Smooth Muscle	Colon
23	chr19:55795000-55796200	Active TSS	NH-A	brain
24	chr19:55795000-55796400	Active TSS	Right Atrium	heart
25	chr19:55795000-55797000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr19:55795000-55797200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:55795000-55797200	Active TSS	HSMM	muscle
28	chr19:55795000-55797200	Active TSS	NHLF	lung
29	chr19:55795200-55795400	Active TSS	Brain Substantia Nigra	brain
30	chr19:55795200-55795400	Active TSS	Fetal Kidney	kidney
31	chr19:55795200-55795800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr19:55795200-55795800	Active TSS	Psoas Muscle	Psoas
33	chr19:55795200-55795800	Active TSS	NHDF-Ad	bronchial
34	chr19:55795200-55796000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:55795200-55796000	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr19:55795200-55796000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:55795200-55796000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:55795200-55796000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:55795200-55796000	Active TSS	Aorta	Aorta
40	chr19:55795200-55796000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr19:55795200-55796000	Active TSS	Fetal Muscle Leg	muscle
42	chr19:55795200-55796000	Active TSS	Fetal Stomach	stomach
43	chr19:55795200-55796000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr19:55795200-55796200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:55795200-55796200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:55795200-55796200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:55795200-55796200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:55795200-55796200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr19:55795200-55796200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:55795200-55796200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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