Variant report

Variant	rs551450168
Chromosome Location	chr1:97189492-97189493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:97185840..97188668-chr1:97188930..97190541,2	K562	blood:
2	chr1:97183615..97185204-chr1:97188330..97190541,2	K562	blood:
3	chr1:97184820..97186357-chr1:97189356..97191096,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117569	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	nsv830681	chr1:97165786-97338064	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3414899	chr1:97187980-97211076	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	esv1797391	chr1:97188394-97293023	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1801594	chr1:97188394-97293023	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 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	chr1:97186400-97189600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:97186400-97189600	Active TSS	NHDF-Ad	bronchial
3	chr1:97186400-97190000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:97186600-97189600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:97186600-97189800	Active TSS	NHLF	lung
6	chr1:97186600-97190200	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:97186800-97190000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:97187000-97189600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:97187000-97189600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:97187000-97189800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:97187000-97189800	Active TSS	GM12878-XiMat	blood
12	chr1:97187400-97191000	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr1:97188000-97189600	Active TSS	Brain Germinal Matrix	brain
14	chr1:97188000-97196200	Weak transcription	Spleen	Spleen
15	chr1:97188200-97189600	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr1:97188200-97189600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr1:97188200-97189600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:97188200-97189600	Flanking Active TSS	HUVEC	blood vessel
19	chr1:97188200-97189800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:97188200-97189800	Transcr. at gene 5' and 3'	K562	blood
21	chr1:97188400-97189600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
22	chr1:97188400-97189600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:97188400-97189800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
24	chr1:97188400-97189800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
25	chr1:97188400-97189800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:97188400-97189800	Weak transcription	Pancreas	Pancrea
27	chr1:97188400-97189800	Weak transcription	Small Intestine	intestine
28	chr1:97188400-97191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:97188400-97193400	Weak transcription	Left Ventricle	heart
30	chr1:97188400-97198600	Weak transcription	Gastric	stomach
31	chr1:97188400-97202200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:97188400-97206800	Weak transcription	Lung	lung
33	chr1:97188600-97189800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:97188600-97191000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:97188600-97198600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:97188600-97200400	Weak transcription	Esophagus	oesophagus
37	chr1:97188600-97200800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:97188600-97205800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:97188600-97217200	Weak transcription	Placenta	Placenta
40	chr1:97188600-97238000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:97188800-97189800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:97188800-97189800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
43	chr1:97188800-97189800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
44	chr1:97188800-97189800	Enhancers	Liver	Liver
45	chr1:97188800-97190800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:97188800-97219800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:97189000-97189600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
48	chr1:97189000-97190000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:97189000-97190000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:97189000-97191200	Enhancers	Primary T helper cells fromperipheralblood	blood

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