Variant report

Variant	rs556915473
Chromosome Location	chr19:38790589-38790590
allele	C/G
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	TCF12	chr19:38789308-38790621	MCF-7	breast:	n/a	chr19:38789766-38789775 chr19:38790089-38790096

No.	Distal block	Cell Line	Cell type
1	chr19:38753031..38764322-chr19:38787496..38798494,54	MCF-7	breast:
2	chr19:13262824..13265095-chr19:38789559..38791383,2	MCF-7	breast:
3	chr19:38765937..38769216-chr19:38788492..38791727,3	MCF-7	breast:
4	chr19:38789196..38790974-chr19:38800428..38802782,2	K562	blood:
5	chr19:13951028..13952754-chr19:38788444..38790834,2	MCF-7	breast:
6	chr19:38786777..38792864-chr19:38793393..38797878,11	K562	blood:

Variant related genes	Relation type
C19orf33	TF binding region
ENSG00000167644	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000267598	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv960928	chr19:38790012-38822380	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38765800-38794800	Weak transcription	Small Intestine	intestine
2	chr19:38769200-38791200	Weak transcription	Fetal Kidney	kidney
3	chr19:38769400-38795200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:38771400-38805800	Weak transcription	Right Atrium	heart
5	chr19:38775800-38791000	Weak transcription	Liver	Liver
6	chr19:38777000-38791200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:38781000-38794400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr19:38781200-38795800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:38781200-38805800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:38781400-38795400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr19:38781400-38797800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr19:38781600-38795600	Weak transcription	Right Ventricle	heart
13	chr19:38782000-38806000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:38782200-38791200	Weak transcription	NHDF-Ad	bronchial
15	chr19:38782400-38798000	Weak transcription	Fetal Thymus	thymus
16	chr19:38782600-38796400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr19:38782800-38791200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:38782800-38791200	Weak transcription	Stomach Mucosa	stomach
19	chr19:38783000-38794200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr19:38783000-38795600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:38783200-38794200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr19:38783400-38797000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:38783600-38791400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:38783600-38795200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:38784000-38791200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:38784000-38794600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:38784000-38797200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:38784000-38805800	Weak transcription	Primary B cells from cord blood	blood
29	chr19:38784200-38790800	Weak transcription	Colonic Mucosa	Colon
30	chr19:38784200-38791200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:38784200-38791200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr19:38784200-38793400	Weak transcription	Lung	lung
33	chr19:38784200-38794200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr19:38784200-38794400	Weak transcription	Thymus	Thymus
35	chr19:38784400-38791200	Weak transcription	Pancreas	Pancrea
36	chr19:38784400-38794400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr19:38785200-38791200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:38785200-38795200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:38785200-38795400	Weak transcription	Primary T cells from cord blood	blood
40	chr19:38785200-38795400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:38785400-38791200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:38785400-38791200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:38785400-38791400	Weak transcription	Spleen	Spleen
44	chr19:38785400-38794200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr19:38785400-38794400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr19:38785400-38794600	Weak transcription	Brain Substantia Nigra	brain
47	chr19:38785400-38794800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr19:38785400-38795400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr19:38785400-38797000	Weak transcription	Brain Anterior Caudate	brain
50	chr19:38785600-38791200	Weak transcription	Duodenum Mucosa	Duodenum

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