Variant report

Variant	rs2136922
Chromosome Location	chr1:214778207-214778208
allele	A/G
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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1467084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2666835	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2807665	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2807667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675771	0.83[AMR][1000 genomes]

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	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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214775800-214778600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:214775800-214778600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:214776000-214778600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr1:214776000-214778600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:214776000-214778600	Active TSS	GM12878-XiMat	blood
6	chr1:214776400-214778400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:214777000-214778400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr1:214777000-214778400	Flanking Active TSS	Osteobl	bone
9	chr1:214777200-214778400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:214777200-214778600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:214777200-214779200	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr1:214777400-214778400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:214777400-214778400	Flanking Active TSS	NHEK	skin
14	chr1:214777400-214778600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:214777400-214778800	Flanking Active TSS	HUVEC	blood vessel
16	chr1:214777600-214778400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:214777600-214778400	Flanking Active TSS	HMEC	breast
18	chr1:214777600-214778600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:214777600-214778600	Flanking Active TSS	Hela-S3	cervix
20	chr1:214777600-214779600	Weak transcription	Gastric	stomach
21	chr1:214777600-214782600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
25	chr1:214777800-214778400	Flanking Active TSS	Fetal Heart	heart
26	chr1:214777800-214778400	Flanking Active TSS	A549	lung
27	chr1:214777800-214778400	Flanking Active TSS	NHDF-Ad	bronchial
28	chr1:214777800-214778800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:214777800-214778800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:214777800-214778800	Active TSS	Fetal Brain Female	brain
31	chr1:214777800-214778800	Active TSS	Fetal Thymus	thymus
32	chr1:214777800-214779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:214777800-214780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:214777800-214781000	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:214778000-214778400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:214778000-214778400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:214778000-214778600	Active TSS	Thymus	Thymus
39	chr1:214778000-214778800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:214778000-214779000	Enhancers	Fetal Stomach	stomach
41	chr1:214778000-214780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:214778200-214778400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:214778200-214778400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:214778200-214778400	Active TSS	K562	blood
46	chr1:214778200-214778600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:214778200-214778600	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr1:214778200-214778600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr1:214778200-214778600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:214778200-214778800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links