Variant report

Variant	rs548901009
Chromosome Location	chr1:222790495-222790496
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	POLR2A	chr1:222790384-222791290	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:222790492-222790577	MCF10A-Er-Src	breast:	n/a	n/a
3	BACH1	chr1:222790484-222791170	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr1:222790391-222792363	H1-neurons	neurons:	n/a	chr1:222792129-222792142 chr1:222792014-222792032 chr1:222791917-222791924 chr1:222791990-222792003 chr1:222792016-222792029
5	POLR2A	chr1:222790053-222791684	IMR90	lung:	n/a	n/a
6	MXI1	chr1:222789848-222793177	SK-N-SH	brain:	n/a	chr1:222791038-222791053 chr1:222791036-222791051
7	RCOR1	chr1:222789522-222791271	IMR90	lung:	n/a	n/a
8	NRF1	chr1:222790444-222791280	SK-N-SH	brain:	n/a	chr1:222790947-222790956 chr1:222791171-222791180

No.	Distal block	Cell Line	Cell type
1	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
2	chr1:222790149..222792584-chr1:222885363..222887404,2	K562	blood:
3	chr1:222788058..222793799-chr1:222815102..222819462,10	K562	blood:
4	chr1:222789930..222793106-chr1:222884660..222888170,6	K562	blood:
5	chr1:222788934..222792471-chr1:222815936..222819007,5	MCF-7	breast:
6	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
7	chr1:222789107..222793717-chr1:222814287..222819011,10	K562	blood:

Variant related genes	Relation type
MIA3	TF binding region
ENSG00000162819	Chromatin interaction
ENSG00000143498	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000154305	Chromatin interaction
ENSG00000229399	Chromatin interaction
ENSG00000225265	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv3325041	chr1:222790354-222793202	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222786400-222790600	Weak transcription	Psoas Muscle	Psoas
2	chr1:222787200-222790600	Weak transcription	K562	blood
3	chr1:222787400-222790600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:222787600-222790600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:222789000-222790600	Enhancers	Colonic Mucosa	Colon
6	chr1:222789600-222790600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:222789800-222790600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:222789800-222790600	Enhancers	HepG2	liver
9	chr1:222789800-222790600	Enhancers	HSMM	muscle
10	chr1:222790000-222790600	Enhancers	Stomach Mucosa	stomach
11	chr1:222790200-222790600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr1:222790200-222790600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr1:222790200-222790600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:222790200-222790600	Enhancers	Colon Smooth Muscle	Colon
15	chr1:222790200-222790600	Enhancers	Fetal Intestine Large	intestine
16	chr1:222790200-222790600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr1:222790200-222790600	Enhancers	Fetal Stomach	stomach
18	chr1:222790200-222790600	Bivalent Enhancer	A549	lung
19	chr1:222790200-222790600	Enhancers	NHLF	lung
20	chr1:222790200-222791000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:222790200-222791000	Flanking Active TSS	NHDF-Ad	bronchial
22	chr1:222790200-222791200	Flanking Active TSS	Liver	Liver
23	chr1:222790400-222790600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:222790400-222790600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:222790400-222790600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr1:222790400-222790600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr1:222790400-222790600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:222790400-222790600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:222790400-222790600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:222790400-222790600	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr1:222790400-222790600	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:222790400-222790600	Enhancers	Primary T cells from cord blood	blood
33	chr1:222790400-222790600	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:222790400-222790600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:222790400-222790600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:222790400-222790600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:222790400-222790600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:222790400-222790600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:222790400-222790600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr1:222790400-222790600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:222790400-222790600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:222790400-222790600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:222790400-222790600	Active TSS	Brain Anterior Caudate	brain
44	chr1:222790400-222790600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr1:222790400-222790600	Enhancers	Fetal Heart	heart
46	chr1:222790400-222790600	Flanking Active TSS	Fetal Kidney	kidney
47	chr1:222790400-222790600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:222790400-222790600	Enhancers	Placenta	Placenta
49	chr1:222790400-222790600	Enhancers	Rectal Smooth Muscle	rectum
50	chr1:222790400-222790600	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links