Variant report

Variant	rs550450211
Chromosome Location	chr19:38720048-38720049
allele	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	SIN3AK20	chr19:38719650-38720100	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr19:38718559-38720966	H1-neurons	neurons:	n/a	n/a
3	REST	chr19:38718508-38721161	H1-neurons	neurons:	n/a	chr19:38718827-38718837 chr19:38719471-38719484 chr19:38718636-38718649 chr19:38720543-38720556
4	POLR2A	chr19:38718631-38720930	H1-neurons	neurons:	n/a	n/a
5	ZBTB7A	chr19:38719286-38720226	ECC-1	luminal epithelium:	n/a	chr19:38720079-38720087 chr19:38720078-38720086
6	SIN3A	chr19:38718309-38720711	H1-hESC	embryonic stem cell:	n/a	chr19:38718770-38718781
7	SIN3AK20	chr19:38719047-38720071	PANC-1	pancreas:	n/a	n/a
8	ZBTB7A	chr19:38719762-38720239	K562	blood:	n/a	chr19:38720079-38720087 chr19:38720078-38720086
9	ZBTB7A	chr19:38719477-38720252	ECC-1	luminal epithelium:	n/a	chr19:38720079-38720087 chr19:38720078-38720086
10	MAZ	chr19:38719093-38720928	IMR90	lung:	n/a	chr19:38720133-38720143 chr19:38719671-38719681
11	MXI1	chr19:38718532-38721022	SK-N-SH	brain:	n/a	n/a
12	MAX	chr19:38720042-38720867	A549	lung:	n/a	chr19:38720133-38720143
13	ZBTB7A	chr19:38719756-38720275	K562	blood:	n/a	chr19:38720079-38720087 chr19:38720078-38720086
14	TAF1	chr19:38719045-38720842	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38718052..38720655-chr19:38755234..38758069,2	MCF-7	breast:
2	chr19:38711348..38714655-chr19:38718716..38721513,3	MCF-7	breast:
3	chr19:38718266..38721870-chr19:38794040..38798765,4	MCF-7	breast:
4	chr19:38705043..38707659-chr19:38719005..38721797,2	K562	blood:
5	chr19:38718989..38720789-chr19:38865301..38866855,2	MCF-7	breast:
6	chr19:38719348..38721458-chr19:38874867..38876458,2	K562	blood:
7	chr19:38713729..38715404-chr19:38717530..38720413,2	K562	blood:
8	chr19:38717810..38720228-chr19:38876711..38878921,2	K562	blood:

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000179168	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000099341	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3437908	chr19:38717937-38720485	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3440033	chr19:38718162-38720160	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3419802	chr19:38718712-38720860	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv3405182	chr19:38719137-38721685	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr19:38718000-38720800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:38718400-38720600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr19:38718400-38721000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr19:38718600-38720200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:38718600-38720600	Active TSS	Brain Angular Gyrus	brain
7	chr19:38718600-38720600	Active TSS	Right Ventricle	heart
8	chr19:38718600-38720800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:38718800-38720200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:38718800-38720600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:38718800-38720600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:38718800-38720800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:38718800-38720800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:38718800-38720800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr19:38718800-38721000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:38718800-38721000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr19:38718800-38721200	Active TSS	Brain Germinal Matrix	brain
18	chr19:38718800-38721200	Active TSS	Fetal Brain Female	brain
19	chr19:38719000-38720600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr19:38719000-38720600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:38719000-38720600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:38719000-38720600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:38719000-38720600	Active TSS	Right Atrium	heart
24	chr19:38719200-38720200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr19:38719200-38720200	Bivalent Enhancer	Placenta	Placenta
32	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr19:38719200-38720200	Bivalent Enhancer	Left Ventricle	heart
34	chr19:38719200-38720200	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr19:38719200-38720200	Flanking Bivalent TSS/Enh	HMEC	breast
36	chr19:38719200-38720200	Flanking Active TSS	HUVEC	blood vessel
37	chr19:38719200-38720200	Active TSS	NH-A	brain
38	chr19:38719200-38720200	Active TSS	NHLF	lung
39	chr19:38719200-38720600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:38719200-38720600	Active TSS	HSMM	muscle
41	chr19:38719200-38720800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:38719200-38720800	Active TSS	Fetal Brain Male	brain
43	chr19:38719200-38721000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr19:38719200-38721000	Active TSS	Brain Cingulate Gyrus	brain
45	chr19:38719400-38720200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr19:38719400-38720200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr19:38719400-38720200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
48	chr19:38719400-38720200	Bivalent/Poised TSS	NHEK	skin
49	chr19:38719400-38720200	Flanking Active TSS	Osteobl	bone
50	chr19:38719400-38720400	Active TSS	Pancreatic Islets	Pancreatic Islet

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