Variant report

Variant	rs368345093
Chromosome Location	chr19:55795031-55795032
allele	-/GTTT
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	POLR2A	chr19:55795008-55795306	U87	brain:	n/a	n/a
2	MAZ	chr19:55794951-55797382	IMR90	lung:	n/a	chr19:55795773-55795783
3	TAF1	chr19:55794884-55795375	H1-neurons	neurons:	n/a	n/a
4	RCOR1	chr19:55795020-55795454	K562	blood:	n/a	n/a
5	POLR2A	chr19:55794853-55795460	U87	brain:	n/a	n/a
6	POLR2A	chr19:55794893-55795706	H1-neurons	neurons:	n/a	n/a
7	REST	chr19:55794634-55796279	H1-neurons	neurons:	n/a	chr19:55795633-55795653 chr19:55795468-55795481 chr19:55795625-55795638 chr19:55795512-55795525 chr19:55795613-55795626
8	POLR2A	chr19:55794871-55795717	H1-neurons	neurons:	n/a	n/a
9	BRCA1	chr19:55794995-55795040	GM12878	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
ENSG00000267649	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000233493	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	esv2551845	chr19:55795030-55795033	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
10	esv2287659	chr19:55795030-55795034	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 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	chr19:55794400-55795200	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr19:55794400-55795200	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr19:55794400-55795200	Enhancers	Fetal Brain Male	brain
13	chr19:55794400-55796200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:55794600-55795200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:55794600-55795200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:55794600-55795200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr19:55794600-55795200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr19:55794600-55795200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:55794600-55795200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr19:55794600-55795200	Bivalent Enhancer	Fetal Thymus	thymus
21	chr19:55794800-55795200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:55794800-55795200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:55794800-55795200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:55794800-55795200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr19:55794800-55795200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr19:55794800-55795200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:55794800-55795200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:55794800-55795200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr19:55794800-55795200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:55794800-55795200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr19:55794800-55795200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:55794800-55795200	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr19:55794800-55795200	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr19:55794800-55795200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr19:55794800-55795200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:55794800-55795200	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr19:55794800-55795200	Enhancers	Fetal Heart	heart
38	chr19:55794800-55795200	Enhancers	Right Ventricle	heart
39	chr19:55794800-55795200	Flanking Active TSS	A549	lung
40	chr19:55794800-55795400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:55794800-55795800	Enhancers	Primary hematopoietic stem cells	blood
42	chr19:55794800-55796400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:55794800-55797000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr19:55795000-55795200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr19:55795000-55795200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:55795000-55795200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:55795000-55795200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr19:55795000-55795200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr19:55795000-55795200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr19:55795000-55795200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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