Variant report

Variant	rs912647
Chromosome Location	chr1:157993097-157993098
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	TCF7L2	chr1:157992495-157993122	Hela-S3	cervix:	n/a	n/a
2	TFAP2C	chr1:157992708-157993179	Hela-S3	cervix:	n/a	n/a
3	PRDM1	chr1:157992766-157993168	Hela-S3	cervix:	n/a	chr1:157992922-157992936

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]
rs1925037	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]
rs4971176	0.83[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]
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:88 , 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	chr1:157983800-157993200	Enhancers	Fetal Kidney	kidney
3	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
4	chr1:157985200-157993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:157985200-157995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
7	chr1:157985400-157993400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:157986000-157993200	Enhancers	Placenta	Placenta
9	chr1:157986200-157993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:157986400-157993200	Enhancers	Fetal Lung	lung
11	chr1:157986400-157993200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:157987000-157993200	Enhancers	Fetal Stomach	stomach
13	chr1:157987200-157996400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:157987800-157993600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:157988000-157993400	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:157988200-157993400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:157988400-157993600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:157989400-158007400	Weak transcription	Gastric	stomach
19	chr1:157989600-157993400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:157989800-157993200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:157989800-157993400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:157989800-157993400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr1:157989800-157993800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:157990000-157993200	Enhancers	HUVEC	blood vessel
25	chr1:157990000-157993800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:157990000-157994600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:157990000-157996400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:157990800-157993400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:157991200-157994600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:157991200-157994600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:157991200-157996600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:157991400-157993600	Enhancers	Osteobl	bone
33	chr1:157991400-157996200	Enhancers	NHDF-Ad	bronchial
34	chr1:157991400-157997000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:157991400-158000400	Weak transcription	Fetal Intestine Large	intestine
36	chr1:157991800-157993200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:157991800-157995000	Weak transcription	Stomach Mucosa	stomach
38	chr1:157991800-158002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:157991800-158007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:157992000-157994400	Weak transcription	Small Intestine	intestine
41	chr1:157992000-157999200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:157992200-157993400	Enhancers	Fetal Intestine Small	intestine
43	chr1:157992200-157993600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:157992200-157995200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:157992200-157995600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:157992200-157996200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:157992400-157993200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:157992400-157993200	Genic enhancers	HMEC	breast
49	chr1:157992600-157993200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr1:157992600-157993200	Flanking Active TSS	Hela-S3	cervix

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