Variant report

Variant	rs10233641
Chromosome Location	chr7:26243108-26243109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:26243099-26243327	K562	blood:	n/a	n/a
2	POLR2A	chr7:26241874-26244447	K562	blood:	n/a	n/a
3	POLR2A	chr7:26241812-26243131	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:26237697-26244169	K562	blood:	n/a	n/a
5	MXI1	chr7:26234540-26244604	SK-N-SH	brain:	n/a	n/a
6	CHD1	chr7:26234064-26243804	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:26237713-26243157	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr7:26237673-26243114	PANC-1	pancreas:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26096714..26102069-chr7:26240159..26243560,6	MCF-7	breast:
2	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:
3	chr12:46766153..46766956-chr7:26243095..26243758,2	NB4	blood:
4	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
5	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:
6	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:

No data

Variant related genes	Relation type
HNRNPA2B1	TF binding region
CBX3	TF binding region
ENSG00000050344	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000266430	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10225431	0.87[TSI][hapmap]
rs10236009	1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs10238831	0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs10247665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1025331	1.00[EUR][1000 genomes]
rs10255851	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[EUR][1000 genomes]
rs11486821	1.00[EUR][1000 genomes]
rs11971002	1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11974650	0.93[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11983671	1.00[EUR][1000 genomes]
rs12700716	0.93[EUR][1000 genomes]
rs2059903	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2237331	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs34876113	1.00[EUR][1000 genomes]
rs36032567	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6461919	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.85[ASN][1000 genomes]
rs6974645	1.00[EUR][1000 genomes]
rs6976408	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs71521751	0.88[EUR][1000 genomes]
rs7803845	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887850	chr7:26236235-26244365	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv606459	chr7:26236933-26243108	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	139 gene(s)	inside rSNPs	n/a
6	nsv887852	chr7:26236933-26244365	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
7	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
8	nsv887854	chr7:26238100-26248965	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	136 gene(s)	inside rSNPs	n/a
9	nsv606460	chr7:26239704-26243108	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	131 gene(s)	inside rSNPs	n/a
10	esv3376986	chr7:26242542-26248102	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
11	esv3440481	chr7:26242638-26245990	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
12	esv1821097	chr7:26243108-26303403	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10233641	FGFBP2	trans	lymphoblastoid	seeQTL
rs10233641	GRASP	trans	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:26236600-26243600	Active TSS	Right Ventricle	heart
3	chr7:26237000-26243600	Active TSS	Aorta	Aorta
4	chr7:26237000-26244400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:26237200-26243400	Active TSS	Fetal Muscle Leg	muscle
7	chr7:26237200-26244000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:26237200-26244400	Active TSS	Fetal Intestine Small	intestine
9	chr7:26237200-26244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:26237200-26245000	Active TSS	Thymus	Thymus
11	chr7:26237400-26243400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:26237400-26244000	Active TSS	Duodenum Mucosa	Duodenum
13	chr7:26237400-26244000	Active TSS	Fetal Intestine Large	intestine
14	chr7:26237400-26244200	Active TSS	Fetal Stomach	stomach
15	chr7:26237400-26244200	Active TSS	Psoas Muscle	Psoas
16	chr7:26237400-26244600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:26237400-26244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:26237400-26244800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:26237600-26243400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:26237600-26243400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:26237600-26243800	Active TSS	HSMMtube	muscle
22	chr7:26239000-26243200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:26239000-26243200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:26239000-26243600	Active TSS	Primary T cells fromperipheralblood	blood
25	chr7:26239000-26244000	Active TSS	HMEC	breast
26	chr7:26239200-26244000	Active TSS	Fetal Thymus	thymus
27	chr7:26239200-26244000	Active TSS	NHDF-Ad	bronchial
28	chr7:26239400-26243400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr7:26239400-26243400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr7:26239400-26244000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr7:26239400-26244000	Active TSS	Hela-S3	cervix
32	chr7:26239400-26244600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:26239400-26244800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:26239600-26243400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr7:26239600-26243400	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr7:26240400-26243400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:26241600-26243400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr7:26241600-26244000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:26242000-26243400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr7:26242000-26243400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:26242000-26245200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:26242000-26246200	Transcr. at gene 5' and 3'	Dnd41	blood
43	chr7:26242200-26243400	Active TSS	Brain Germinal Matrix	brain
44	chr7:26242200-26244000	Weak transcription	Spleen	Spleen
45	chr7:26242200-26244200	Flanking Active TSS	Liver	Liver
46	chr7:26242200-26244400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr7:26242200-26244400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr7:26242200-26244600	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr7:26242200-26244800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:26242200-26245000	Flanking Active TSS	Primary T cells from cord blood	blood

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