Variant report

Variant	rs187461707
Chromosome Location	chr1:214778717-214778718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214777666..214779180-chr1:214780715..214782314,2	K562	blood:
2	chr1:214777011..214779791-chr1:214784551..214787409,3	K562	blood:

Variant related genes	Relation type
ENSG00000250536	Chromatin interaction
ENSG00000224584	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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv10993	chr1:214774207-214778763	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777200-214779200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:214777400-214778800	Flanking Active TSS	HUVEC	blood vessel
3	chr1:214777600-214779600	Weak transcription	Gastric	stomach
4	chr1:214777600-214782600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
8	chr1:214777800-214778800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:214777800-214778800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:214777800-214778800	Active TSS	Fetal Brain Female	brain
11	chr1:214777800-214778800	Active TSS	Fetal Thymus	thymus
12	chr1:214777800-214779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:214777800-214780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:214777800-214781000	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:214778000-214778800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:214778000-214779000	Enhancers	Fetal Stomach	stomach
18	chr1:214778000-214780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:214778200-214778800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:214778200-214778800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:214778200-214778800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:214778200-214778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:214778200-214778800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:214778200-214778800	Enhancers	HepG2	liver
26	chr1:214778200-214778800	Enhancers	NHLF	lung
27	chr1:214778200-214779200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:214778200-214780400	Weak transcription	Fetal Intestine Small	intestine
29	chr1:214778200-214780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:214778200-214780800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:214778200-214781000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:214778200-214782400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:214778200-214782600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:214778200-214782600	Weak transcription	Fetal Lung	lung
35	chr1:214778200-214783000	Weak transcription	Fetal Kidney	kidney
36	chr1:214778200-214786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:214778200-214786600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:214778200-214791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:214778200-214791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:214778200-214793000	Weak transcription	HSMM	muscle
41	chr1:214778200-214793600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:214778200-214793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:214778400-214778800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr1:214778400-214778800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:214778400-214778800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:214778400-214778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:214778400-214778800	Enhancers	HMEC	breast
49	chr1:214778400-214778800	Enhancers	NHDF-Ad	bronchial
50	chr1:214778400-214779200	Enhancers	Fetal Heart	heart

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