Variant report

Variant	rs60928633
Chromosome Location	chr2:172000333-172000334
allele	C/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	ZNF384	chr2:171999900-172000485	GM12878	blood:	n/a	n/a
2	ZNF384	chr2:171999566-172000356	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:171943630..171945702-chr2:171997919..172000356,2	K562	blood:
2	chr2:171783394..171785153-chr2:171999161..172001599,2	K562	blood:
3	chr2:171992932..171995036-chr2:171997675..172000538,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238567	TF binding region
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1019710	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1019711	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11883894	0.82[ASN][1000 genomes]
rs11888556	0.86[AFR][1000 genomes]
rs11900305	0.82[AFR][1000 genomes]
rs12464487	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12467411	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12469418	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12469870	1.00[EUR][1000 genomes]
rs12470359	1.00[EUR][1000 genomes]
rs12473741	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12477413	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12477548	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12477555	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12478336	1.00[EUR][1000 genomes]
rs16859157	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16859189	1.00[EUR][1000 genomes]
rs16859203	0.83[EUR][1000 genomes]
rs1863679	0.85[ASN][1000 genomes]
rs1989612	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1989613	0.82[ASN][1000 genomes]
rs2356517	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35614064	1.00[EUR][1000 genomes]
rs3770419	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4305237	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4331471	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4365428	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56216250	0.80[ASN][1000 genomes]
rs57335774	0.82[ASN][1000 genomes]
rs57851561	1.00[EUR][1000 genomes]
rs58126203	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58289498	1.00[EUR][1000 genomes]
rs58441581	0.83[EUR][1000 genomes]
rs58712847	1.00[EUR][1000 genomes]
rs59083018	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60091560	0.82[ASN][1000 genomes]
rs60241632	1.00[EUR][1000 genomes]
rs60724749	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60729063	1.00[EUR][1000 genomes]
rs728456	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs728457	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7423767	0.91[EUR][1000 genomes];0.82[ASN][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	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:171957200-172010400	Weak transcription	HSMM	muscle
3	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:171974000-172003200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:171974000-172003200	Weak transcription	Fetal Thymus	thymus
6	chr2:171974200-172002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:171974400-172003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:171984600-172003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:171985600-172006200	Weak transcription	Esophagus	oesophagus
10	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:171989400-172007000	Weak transcription	Lung	lung
12	chr2:171990000-172016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:171990600-172004800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:171990800-172001200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:171993800-172001800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:171994000-172002200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:171994000-172010400	Weak transcription	Thymus	Thymus
18	chr2:171994200-172002800	Weak transcription	Right Atrium	heart
19	chr2:171994200-172010400	Weak transcription	Ovary	ovary
20	chr2:171994800-172005400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:171995000-172001000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:171995200-172004400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:171995400-172012200	Weak transcription	Dnd41	blood
24	chr2:171996600-172001400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:171996600-172006000	Weak transcription	Gastric	stomach
26	chr2:171996600-172015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:171996600-172015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:171996600-172015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:171997000-172007600	Weak transcription	Placenta	Placenta
30	chr2:171997000-172010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:171997400-172001800	Enhancers	Liver	Liver
32	chr2:171997600-172000400	Enhancers	Primary T cells from cord blood	blood
33	chr2:171998000-172003200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:171998200-172000400	Weak transcription	HUVEC	blood vessel
35	chr2:171998200-172001600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:171998200-172001600	Weak transcription	HMEC	breast
37	chr2:171998200-172003200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:171998200-172003200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:171998200-172003400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:171998200-172003600	Weak transcription	Brain Angular Gyrus	brain
41	chr2:171998200-172004800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:171998200-172007200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:171998200-172010400	Weak transcription	Psoas Muscle	Psoas
44	chr2:171998400-172000600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:171998400-172000600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:171998400-172000800	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:171998400-172002200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:171998400-172003200	Weak transcription	Adipose Nuclei	Adipose
49	chr2:171998400-172004600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:171998400-172014800	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links