Variant report

Variant	rs147148300
Chromosome Location	chr19:44806632-44806633
allele	-/TGTAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44792368..44795343-chr19:44804228..44806715,3	K562	blood:
2	chr19:44762662..44765169-chr19:44806024..44808707,2	K562	blood:

Variant related genes	Relation type
ENSG00000270679	Chromatin interaction
ENSG00000159915	Chromatin interaction
ENSG00000159917	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	esv3329886	chr19:44806187-44808310	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv3323592	chr19:44806562-44807960	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 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	chr19:44777000-44807000	ZNF genes & repeats	Liver	Liver
2	chr19:44790400-44806800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:44790400-44808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44791200-44806800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:44792400-44807600	Weak transcription	HUVEC	blood vessel
6	chr19:44792800-44807600	Weak transcription	NH-A	brain
7	chr19:44792800-44808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44794400-44806800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:44794600-44807600	Strong transcription	Primary B cells from cord blood	blood
10	chr19:44796800-44806800	Strong transcription	Brain Germinal Matrix	brain
11	chr19:44798400-44807000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:44798400-44807400	Strong transcription	Dnd41	blood
13	chr19:44798600-44806800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:44799200-44806800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:44799400-44806800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:44799400-44806800	Strong transcription	Fetal Kidney	kidney
17	chr19:44799600-44806800	Strong transcription	Placenta	Placenta
18	chr19:44799600-44806800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:44799600-44807600	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:44799800-44807400	Weak transcription	K562	blood
21	chr19:44799800-44807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:44800000-44806800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:44800000-44806800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr19:44800000-44806800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:44800200-44806800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:44800200-44806800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:44800400-44806800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:44800400-44806800	Strong transcription	Brain Anterior Caudate	brain
29	chr19:44800800-44806800	Strong transcription	Fetal Muscle Leg	muscle
30	chr19:44801000-44807600	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:44801200-44806800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:44801200-44806800	Strong transcription	Fetal Thymus	thymus
33	chr19:44801200-44806800	Strong transcription	Thymus	Thymus
34	chr19:44801400-44807000	Strong transcription	Fetal Intestine Large	intestine
35	chr19:44801400-44807400	Weak transcription	NHLF	lung
36	chr19:44801400-44807600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:44801400-44807600	Weak transcription	HSMM	muscle
38	chr19:44801600-44806800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:44801600-44806800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:44801600-44806800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr19:44802000-44806800	Strong transcription	Primary T cells from cord blood	blood
42	chr19:44802200-44806800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:44802200-44806800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:44802200-44807600	Strong transcription	Fetal Stomach	stomach
45	chr19:44802600-44807400	Weak transcription	HMEC	breast
46	chr19:44802800-44807000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:44802800-44807600	Weak transcription	Psoas Muscle	Psoas
48	chr19:44802800-44807600	Weak transcription	Stomach Mucosa	stomach
49	chr19:44803000-44806800	Strong transcription	Colon Smooth Muscle	Colon
50	chr19:44803200-44807400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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