Variant report

Variant	rs1925037
Chromosome Location	chr1:157990700-157990701
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	chr1:157990503-157990799	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:157980406..157983368-chr1:157988556..157991541,2	K562	blood:

Variant related genes	Relation type
KIRREL-IT1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11264876	0.83[EUR][1000 genomes]
rs17418566	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17452391	0.88[EUR][1000 genomes]
rs17453287	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4971176	0.82[MKK][hapmap]
rs6671484	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519243	1.00[YRI][hapmap]
rs912645	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs912646	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs912647	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs927700	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:157979800-157991000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:157982400-157991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:157983800-157993200	Enhancers	Fetal Kidney	kidney
5	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
6	chr1:157985200-157993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:157985200-157995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
9	chr1:157985400-157993400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:157985600-157991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:157986000-157993000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:157986000-157993200	Enhancers	Placenta	Placenta
13	chr1:157986200-157993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:157986400-157993000	Enhancers	Ovary	ovary
15	chr1:157986400-157993200	Enhancers	Fetal Lung	lung
16	chr1:157986400-157993200	Enhancers	Fetal Muscle Leg	muscle
17	chr1:157987000-157990800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:157987000-157991000	Weak transcription	Small Intestine	intestine
19	chr1:157987000-157993200	Enhancers	Fetal Stomach	stomach
20	chr1:157987200-157996400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:157987600-157991200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:157987600-157993000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:157987800-157991200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:157987800-157991400	Enhancers	Fetal Heart	heart
25	chr1:157987800-157993000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:157987800-157993600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:157988000-157993400	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:157988200-157991400	Enhancers	Fetal Intestine Large	intestine
29	chr1:157988200-157991400	Enhancers	Fetal Intestine Small	intestine
30	chr1:157988200-157993400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:157988400-157992400	Weak transcription	Esophagus	oesophagus
32	chr1:157988400-157993600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:157988600-157991200	Weak transcription	Colonic Mucosa	Colon
34	chr1:157989000-157991200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:157989000-157991200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:157989000-157991600	Weak transcription	Spleen	Spleen
37	chr1:157989000-157992600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:157989400-157990800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:157989400-157992600	Weak transcription	Psoas Muscle	Psoas
40	chr1:157989400-157992600	Weak transcription	Right Ventricle	heart
41	chr1:157989400-158007400	Weak transcription	Gastric	stomach
42	chr1:157989600-157991400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:157989600-157991800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:157989600-157993400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:157989800-157992200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:157989800-157992600	Enhancers	Adipose Nuclei	Adipose
47	chr1:157989800-157993200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr1:157989800-157993400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:157989800-157993400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr1:157989800-157993800	Enhancers	HUES64 Cell Line	embryonic stem cell

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