Variant report

Variant	rs534406701
Chromosome Location	chr1:172519130-172519131
allele	A/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	GATA2	chr1:172519100-172519300	SH-SY5Y	brain:	n/a	n/a
2	IRF1	chr1:172518877-172519178	K562	blood:	n/a	chr1:172519062-172519073 chr1:172519059-172519072 chr1:172519060-172519077

No.	Distal block	Cell Line	Cell type
1	chr1:172518787..172521238-chr1:172523963..172525755,2	MCF-7	breast:
2	chr1:172510611..172514641-chr1:172517107..172521407,5	K562	blood:
3	chr1:172518503..172521143-chr1:172524413..172526637,2	K562	blood:
4	chr1:172500260..172503470-chr1:172516553..172520247,3	MCF-7	breast:
5	chr1:172518008..172521748-chr1:172521862..172526550,7	K562	blood:
6	chr1:172503233..172505429-chr1:172517362..172521428,4	MCF-7	breast:

Variant related genes	Relation type
SUCO	TF binding region
ENSG00000094975	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	nsv872547	chr1:172511969-172545832	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv872548	chr1:172518012-172551724	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172503400-172528600	Weak transcription	Aorta	Aorta
2	chr1:172503400-172528600	Weak transcription	Lung	lung
3	chr1:172503600-172520200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:172503600-172531600	Weak transcription	Esophagus	oesophagus
5	chr1:172503800-172529000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:172503800-172534200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:172504000-172524400	Weak transcription	HSMM	muscle
8	chr1:172504200-172527000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:172504400-172519400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:172505800-172519600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:172506000-172532600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:172506200-172525000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:172506200-172526200	Weak transcription	Fetal Intestine Large	intestine
14	chr1:172506200-172528400	Weak transcription	Fetal Stomach	stomach
15	chr1:172507400-172523000	Weak transcription	NHDF-Ad	bronchial
16	chr1:172507400-172526400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:172507400-172528600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:172508200-172519200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:172508200-172526400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:172509400-172530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:172510000-172524000	Weak transcription	Dnd41	blood
22	chr1:172510000-172525000	Weak transcription	Left Ventricle	heart
23	chr1:172511800-172524800	Weak transcription	Liver	Liver
24	chr1:172511800-172528600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:172512000-172523400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:172512000-172529000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:172512000-172534200	Weak transcription	Gastric	stomach
29	chr1:172512400-172524200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:172513600-172524600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:172513800-172525000	Weak transcription	Fetal Thymus	thymus
32	chr1:172514200-172558800	Weak transcription	Small Intestine	intestine
33	chr1:172514400-172526200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:172514600-172524200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:172514800-172528600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:172514800-172530200	Weak transcription	Thymus	Thymus
37	chr1:172515000-172523400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:172515000-172524400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:172515200-172521800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:172515200-172524400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:172515200-172524400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:172515200-172524800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:172515200-172525200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:172515200-172528000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:172515200-172528200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:172515400-172521400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:172515400-172521800	Weak transcription	Primary B cells from cord blood	blood
48	chr1:172515400-172523400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:172515400-172524000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:172515400-172528600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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