Variant report

Variant	rs573206721
Chromosome Location	chr1:10269627-10269628
allele	-/AT
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	HCFC1	chr1:10269616-10270937	Hela-S3	cervix:	n/a	n/a
2	IRF1	chr1:10269558-10269651	K562	blood:	n/a	n/a
3	REST	chr1:10269433-10272638	H1-neurons	neurons:	n/a	chr1:10271064-10271074 chr1:10270783-10270793 chr1:10270431-10270441 chr1:10270583-10270596 chr1:10270241-10270254
4	SMC3	chr1:10269607-10270953	SK-N-SH	brain:	n/a	chr1:10270711-10270721 chr1:10270408-10270418 chr1:10270404-10270418 chr1:10270404-10270411 chr1:10270300-10270310
5	RCOR1	chr1:10269118-10270983	IMR90	lung:	n/a	n/a
6	MXI1	chr1:10269317-10272797	SK-N-SH	brain:	n/a	n/a
7	CHD1	chr1:10269586-10270414	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr1:10269369-10272656	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10269235..10270735-chr17:41462941..41466799,3	K562	blood:
2	chr1:10269508..10272201-chr1:10459062..10462119,3	K562	blood:

Variant related genes	Relation type
KIF1B	TF binding region
ENSG00000188825	Chromatin interaction
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3440429	chr1:10269390-10271938	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10250000-10269800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:10268600-10270400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:10268800-10269800	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:10269000-10269800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:10269000-10269800	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:10269200-10269800	Active TSS	Primary hematopoietic stem cells	blood
7	chr1:10269400-10269800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:10269400-10269800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:10269400-10269800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:10269400-10269800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr1:10269400-10269800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:10269400-10269800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:10269400-10269800	Enhancers	Liver	Liver
14	chr1:10269400-10269800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:10269400-10269800	Flanking Active TSS	Fetal Brain Female	brain
16	chr1:10269400-10269800	Enhancers	Fetal Heart	heart
17	chr1:10269400-10269800	Enhancers	HepG2	liver
18	chr1:10269400-10270000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:10269400-10270000	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr1:10269400-10270000	Flanking Active TSS	A549	lung
21	chr1:10269400-10270200	Flanking Active TSS	Dnd41	blood
22	chr1:10269400-10270800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:10269400-10271400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:10269400-10272200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:10269400-10272400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:10269400-10272400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:10269400-10272400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:10269400-10272400	Active TSS	NHDF-Ad	bronchial
29	chr1:10269400-10272600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:10269400-10272800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:10269400-10273200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:10269600-10269800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:10269600-10269800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:10269600-10269800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:10269600-10269800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:10269600-10269800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:10269600-10269800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr1:10269600-10269800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr1:10269600-10269800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:10269600-10269800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:10269600-10269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:10269600-10269800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:10269600-10269800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:10269600-10269800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:10269600-10269800	Enhancers	Brain Substantia Nigra	brain
46	chr1:10269600-10269800	Enhancers	Colonic Mucosa	Colon
47	chr1:10269600-10269800	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr1:10269600-10269800	Flanking Active TSS	Fetal Brain Male	brain
49	chr1:10269600-10269800	Enhancers	Fetal Kidney	kidney
50	chr1:10269600-10269800	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links