Variant report

Variant	rs558228729
Chromosome Location	chr19:19161233-19161234
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19160954-19166976	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19161010..19164780-chr19:19249045..19252111,4	MCF-7	breast:
2	chr19:19150556..19153646-chr19:19160742..19164221,4	K562	blood:
3	chr19:19142741..19144460-chr19:19159670..19161319,2	MCF-7	breast:
4	chr19:19158546..19161308-chr19:19161560..19163154,2	K562	blood:
5	chr19:19160117..19161662-chr19:19222753..19224886,2	K562	blood:
6	chr19:19153804..19155400-chr19:19160958..19162912,2	K562	blood:
7	chr19:19161171..19163416-chr19:19248764..19250387,2	K562	blood:
8	chr19:19161051..19163295-chr19:19164654..19166677,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARMC6	TF binding region
ENSG00000105676	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000064607	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	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	esv3420595	chr19:19160552-19164950	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
2	chr19:19145400-19165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
4	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
5	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
7	chr19:19146600-19161800	Weak transcription	Psoas Muscle	Psoas
8	chr19:19148400-19161600	Weak transcription	Fetal Heart	heart
9	chr19:19149400-19164800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:19151000-19173800	Weak transcription	Fetal Brain Male	brain
11	chr19:19151400-19162000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:19151800-19166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:19151800-19173800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:19151800-19173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:19152600-19173200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:19152800-19171400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:19153200-19171000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr19:19153200-19171200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:19153200-19171400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:19153200-19172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:19153200-19173600	Strong transcription	Fetal Stomach	stomach
22	chr19:19153400-19163800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:19153400-19167400	Strong transcription	Fetal Muscle Leg	muscle
24	chr19:19153400-19168400	Strong transcription	Fetal Intestine Small	intestine
25	chr19:19153400-19168600	Strong transcription	Fetal Intestine Large	intestine
26	chr19:19153400-19169800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:19153400-19170400	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr19:19153400-19170800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:19153400-19170800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:19153400-19170800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:19153400-19171000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:19153400-19171200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:19154800-19161600	Strong transcription	Fetal Thymus	thymus
34	chr19:19155400-19161600	Weak transcription	Brain Angular Gyrus	brain
35	chr19:19155400-19162400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:19155400-19162400	Weak transcription	Aorta	Aorta
37	chr19:19155400-19165200	Weak transcription	NHDF-Ad	bronchial
38	chr19:19155600-19161400	Weak transcription	A549	lung
39	chr19:19155600-19161600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:19155600-19161600	Weak transcription	Right Ventricle	heart
41	chr19:19155600-19162000	Weak transcription	Pancreas	Pancrea
42	chr19:19155600-19162400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr19:19155600-19162400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:19155600-19162600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:19155600-19162600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:19155600-19165000	Weak transcription	HUVEC	blood vessel
47	chr19:19155800-19161600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:19155800-19161600	Weak transcription	Spleen	Spleen
49	chr19:19155800-19161800	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:19155800-19162000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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