Variant report

Variant	rs563105172
Chromosome Location	chr19:41881951-41881952
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	BCL3	chr19:41881874-41883724	A549	lung:	n/a	chr19:41882570-41882579
2	POLR2A	chr19:41881878-41883460	HepG2	liver:	n/a	n/a
3	BCL3	chr19:41881822-41883679	A549	lung:	n/a	chr19:41882570-41882579

No.	Distal block	Cell Line	Cell type
1	chr19:41880830..41883046-chr19:41887103..41889706,2	MCF-7	breast:
2	chr19:41846876..41849699-chr19:41880679..41882557,2	K562	blood:
3	chr19:41869853..41871782-chr19:41881681..41884054,2	K562	blood:

Variant related genes	Relation type
BCKDHA	TF binding region
ENSG00000255730	TF binding region
TMEM91	TF binding region
ENSG00000123810	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000142046	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521311	chr19:41856886-41882712	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
2	esv996035	chr19:41881445-41887549	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41870600-41882000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:41870800-41882000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:41871000-41882000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:41871000-41882000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:41871000-41882000	Weak transcription	Primary T cells from cord blood	blood
6	chr19:41871200-41882000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:41871200-41882000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:41871200-41882000	Weak transcription	Thymus	Thymus
9	chr19:41871200-41882200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:41871200-41884000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:41871200-41888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:41871400-41882000	Weak transcription	Liver	Liver
13	chr19:41871400-41888400	Weak transcription	Dnd41	blood
14	chr19:41872600-41882200	Weak transcription	Fetal Thymus	thymus
15	chr19:41873800-41882000	Weak transcription	Spleen	Spleen
16	chr19:41874200-41882000	Weak transcription	Stomach Mucosa	stomach
17	chr19:41874200-41882200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:41874400-41882200	Weak transcription	Small Intestine	intestine
19	chr19:41874400-41882200	Weak transcription	HSMM	muscle
20	chr19:41874800-41882000	Weak transcription	Esophagus	oesophagus
21	chr19:41875000-41882000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:41875000-41882000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:41875400-41882800	Weak transcription	K562	blood
24	chr19:41875400-41883000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:41878800-41882000	Enhancers	Fetal Brain Female	brain
26	chr19:41879000-41882000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:41879600-41882000	Enhancers	Fetal Brain Male	brain
28	chr19:41879600-41882000	Enhancers	Fetal Muscle Leg	muscle
29	chr19:41879800-41882000	Enhancers	Fetal Stomach	stomach
30	chr19:41879800-41882200	Enhancers	Brain Hippocampus Middle	brain
31	chr19:41880200-41882000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:41880200-41882000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:41880200-41882000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:41880200-41882000	Weak transcription	Fetal Intestine Small	intestine
35	chr19:41880200-41882000	Weak transcription	Gastric	stomach
36	chr19:41880200-41882000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr19:41880200-41882000	Weak transcription	Right Atrium	heart
38	chr19:41880200-41882000	Weak transcription	Right Ventricle	heart
39	chr19:41880200-41882200	Weak transcription	Left Ventricle	heart
40	chr19:41880400-41882000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:41880400-41882000	Enhancers	Stomach Smooth Muscle	stomach
42	chr19:41880400-41882000	Weak transcription	HMEC	breast
43	chr19:41880400-41882000	Weak transcription	HUVEC	blood vessel
44	chr19:41880400-41894000	Weak transcription	HSMMtube	muscle
45	chr19:41880600-41882000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:41880600-41882000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:41880600-41882000	Enhancers	Brain Germinal Matrix	brain
48	chr19:41880600-41882000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:41880600-41882000	Weak transcription	Brain Substantia Nigra	brain
50	chr19:41880600-41882000	Weak transcription	Colonic Mucosa	Colon

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