Variant report

Variant	rs554929341
Chromosome Location	chr19:19174973-19174974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19172859..19177096-chr19:19213191..19220004,7	K562	blood:
2	chr19:19169646..19176603-chr19:19241603..19250623,23	K562	blood:
3	chr19:19141992..19145925-chr19:19172787..19177854,10	K562	blood:
4	chr19:19170341..19177029-chr19:19229928..19235464,11	K562	blood:
5	chr19:19170465..19178046-chr19:19213939..19220242,15	K562	blood:
6	chr19:19143657..19146284-chr19:19174594..19176382,2	MCF-7	breast:
7	chr19:4182504..4183123-chr19:19174511..19175337,2	NB4	blood:
8	chr19:19042101..19044216-chr19:19173856..19175729,2	K562	blood:
9	chr19:19172595..19175925-chr19:19247411..19251399,4	MCF-7	breast:
10	chr19:19169419..19177029-chr19:19229685..19233171,13	K562	blood:
11	chr19:19161417..19167211-chr19:19171135..19175299,5	MCF-7	breast:
12	chr19:19141992..19145825-chr19:19171077..19177701,15	K562	blood:
13	chr19:19169646..19176667-chr19:19241603..19249514,19	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000077463	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv17267	chr19:19174047-19177125	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19173800-19175000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:19173800-19175000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:19173800-19175000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:19173800-19175000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:19173800-19175000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr19:19173800-19175200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:19173800-19175200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr19:19173800-19175400	Active TSS	Rectal Smooth Muscle	rectum
9	chr19:19173800-19175600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:19174000-19175000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr19:19174000-19175000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr19:19174000-19175000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:19174000-19175200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr19:19174000-19175200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:19174000-19175200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr19:19174000-19175200	Active TSS	Psoas Muscle	Psoas
17	chr19:19174000-19175400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:19174000-19175400	Active TSS	Aorta	Aorta
19	chr19:19174000-19176200	Active TSS	Gastric	stomach
20	chr19:19174000-19176200	Active TSS	Ovary	ovary
21	chr19:19174000-19176400	Active TSS	Fetal Kidney	kidney
22	chr19:19174000-19176400	Active TSS	Right Atrium	heart
23	chr19:19174000-19176600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr19:19174000-19176600	Active TSS	Thymus	Thymus
25	chr19:19174200-19175000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:19174200-19175000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:19174200-19175000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:19174200-19175000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr19:19174200-19175000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr19:19174200-19175000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:19174200-19175000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:19174200-19175000	Active TSS	Colonic Mucosa	Colon
33	chr19:19174200-19175000	Weak transcription	Fetal Brain Male	brain
34	chr19:19174200-19175000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr19:19174200-19175000	Active TSS	Right Ventricle	heart
36	chr19:19174200-19175000	Active TSS	Spleen	Spleen
37	chr19:19174200-19175200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:19174200-19175200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:19174200-19175200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:19174200-19175200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:19174200-19175200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:19174200-19175200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:19174200-19175200	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr19:19174200-19175200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:19174200-19175200	Active TSS	Brain Cingulate Gyrus	brain
46	chr19:19174200-19175200	Active TSS	Brain Germinal Matrix	brain
47	chr19:19174200-19175200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr19:19174200-19175200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:19174200-19175200	Active TSS	Brain Substantia Nigra	brain
50	chr19:19174200-19175200	Active TSS	Duodenum Smooth Muscle	Duodenum

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