Variant report

Variant	rs10251357
Chromosome Location	chr7:140483037-140483038
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	chr7:140482861-140483067	K562	blood:	n/a	n/a

Variant related genes	Relation type
BRAF	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10225852	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227524	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227617	1.00[AMR][1000 genomes]
rs10229313	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233173	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236260	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241940	0.84[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap]
rs10245178	1.00[YRI][hapmap]
rs10247601	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10247753	1.00[AMR][1000 genomes]
rs10252634	0.85[AFR][1000 genomes]
rs10254605	0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255257	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255271	0.84[ASW][hapmap];0.80[LWK][hapmap];1.00[YRI][hapmap]
rs10255476	0.82[AFR][1000 genomes]
rs10268332	0.82[ASW][hapmap]
rs10271135	1.00[YRI][hapmap]
rs10279071	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10280112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10280479	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10441168	1.00[AMR][1000 genomes]
rs11974522	0.82[AFR][1000 genomes]
rs11979399	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11979913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446531	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28456012	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28481617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28505512	0.84[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28541336	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28612236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28627200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718470	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71645987	0.96[AFR][1000 genomes];1.00[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	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv869260	chr7:140404835-140542905	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140398200-140492600	Weak transcription	Colonic Mucosa	Colon
2	chr7:140398600-140491800	Weak transcription	Fetal Brain Male	brain
3	chr7:140404800-140489000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
5	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:140415200-140506600	Weak transcription	Gastric	stomach
7	chr7:140428200-140489400	Weak transcription	Small Intestine	intestine
8	chr7:140440600-140492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:140441400-140504000	Weak transcription	NHLF	lung
10	chr7:140444200-140485600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:140452400-140506200	Weak transcription	Pancreas	Pancrea
12	chr7:140464800-140495600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:140465600-140500400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:140465800-140508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:140466400-140484800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:140466400-140487600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:140466600-140484400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:140466600-140494600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:140467000-140505000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:140467200-140484000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:140468000-140486000	Weak transcription	HepG2	liver
22	chr7:140469000-140499600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:140469000-140503000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:140469000-140511200	Weak transcription	Right Ventricle	heart
25	chr7:140469200-140519600	Weak transcription	Aorta	Aorta
26	chr7:140469400-140484200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:140469400-140488200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr7:140469600-140484200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:140470000-140483200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:140470800-140484400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:140470800-140484400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:140470800-140486000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:140470800-140504800	Weak transcription	NHEK	skin
34	chr7:140471000-140484400	Strong transcription	Fetal Intestine Large	intestine
35	chr7:140471200-140484200	Strong transcription	Liver	Liver
36	chr7:140471200-140488000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:140471400-140494600	Strong transcription	Adipose Nuclei	Adipose
38	chr7:140471600-140484400	Strong transcription	Placenta	Placenta
39	chr7:140472000-140484600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:140472800-140483200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr7:140472800-140484000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:140472800-140502000	Weak transcription	HMEC	breast
43	chr7:140473000-140483400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr7:140473600-140513600	Weak transcription	Fetal Heart	heart
45	chr7:140474600-140511000	Weak transcription	Brain Substantia Nigra	brain
46	chr7:140475000-140509800	Weak transcription	Spleen	Spleen
47	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:140475600-140484600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:140475600-140494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:140475600-140499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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