Variant report

Variant	rs7948244
Chromosome Location	chr11:72521789-72521790
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	chr11:72521485-72521944	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72490395..72495168-chr11:72521187..72527739,13	MCF-7	breast:
2	chr11:72507503..72509715-chr11:72521788..72523914,2	MCF-7	breast:
3	chr11:72490026..72492739-chr11:72520430..72521985,2	MCF-7	breast:
4	chr11:72493338..72495555-chr11:72520368..72522139,2	MCF-7	breast:

Variant related genes	Relation type
ATG16L2	TF binding region
ENSG00000214530	Chromatin interaction
ENSG00000265064	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1025411	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10736787	1.00[YRI][hapmap]
rs10736789	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751212	1.00[AFR][1000 genomes]
rs10751220	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751221	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10751223	1.00[YRI][hapmap]
rs10898882	1.00[AFR][1000 genomes]
rs11235602	1.00[AFR][1000 genomes]
rs12278657	1.00[AFR][1000 genomes]
rs1367698	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1681501	1.00[AFR][1000 genomes]
rs1785219	1.00[AFR][1000 genomes]
rs1808621	1.00[AFR][1000 genomes]
rs1982038	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2043156	1.00[AFR][1000 genomes]
rs2116235	1.00[AFR][1000 genomes]
rs2365906	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2365907	1.00[YRI][hapmap]
rs2365908	1.00[AFR][1000 genomes]
rs2365909	1.00[AFR][1000 genomes]
rs3862793	1.00[AFR][1000 genomes]
rs3862795	1.00[AFR][1000 genomes]
rs3903492	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4329714	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4373969	1.00[AFR][1000 genomes]
rs4594026	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4643105	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs479093	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944015	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944017	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs494413	1.00[AFR][1000 genomes]
rs4944799	1.00[YRI][hapmap]
rs4944812	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944817	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4944818	1.00[AFR][1000 genomes]
rs537980	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560258	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs560857	1.00[AFR][1000 genomes]
rs593301	1.00[AFR][1000 genomes]
rs640283	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs658164	1.00[AFR][1000 genomes]
rs6592488	1.00[AFR][1000 genomes]
rs6592492	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6592493	1.00[AFR][1000 genomes]
rs6592499	1.00[AFR][1000 genomes]
rs6592501	1.00[AFR][1000 genomes]
rs671766	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7101936	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7115321	1.00[AFR][1000 genomes]
rs7122570	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7129851	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7931372	1.00[AFR][1000 genomes]
rs7937866	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7945119	1.00[AFR][1000 genomes]
rs7947513	1.00[AFR][1000 genomes]
rs7950432	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs919600	1.00[AFR][1000 genomes]
rs9795303	1.00[AFR][1000 genomes]
rs994305	1.00[YRI][hapmap];1.00[AFR][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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72505600-72523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:72505800-72523000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:72505800-72523600	Weak transcription	Stomach Mucosa	stomach
4	chr11:72506000-72521800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:72506000-72522800	Weak transcription	Pancreas	Pancrea
6	chr11:72506000-72523200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:72506000-72523600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:72506000-72523800	Weak transcription	Spleen	Spleen
9	chr11:72506200-72523800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:72509800-72523800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:72509800-72523800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:72510000-72523600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:72510000-72523600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:72510000-72523800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:72510000-72523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:72510200-72523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:72510400-72523800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:72513000-72523600	Weak transcription	Thymus	Thymus
19	chr11:72513800-72523800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:72515000-72523200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:72515000-72523600	Weak transcription	Right Ventricle	heart
22	chr11:72515600-72523000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:72515800-72523200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:72516200-72522800	Weak transcription	Left Ventricle	heart
25	chr11:72516400-72523600	Weak transcription	Esophagus	oesophagus
26	chr11:72516600-72522600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:72516800-72523000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:72516800-72523200	Weak transcription	Fetal Thymus	thymus
29	chr11:72517200-72523600	Weak transcription	Right Atrium	heart
30	chr11:72517200-72523800	Weak transcription	Aorta	Aorta
31	chr11:72517400-72523200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:72517800-72523200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:72517800-72523600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:72517800-72523600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:72518000-72523600	Weak transcription	Fetal Lung	lung
36	chr11:72518200-72523000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:72518200-72523600	Weak transcription	Colonic Mucosa	Colon
38	chr11:72518400-72522600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:72518400-72523600	Weak transcription	NHLF	lung
40	chr11:72518600-72523800	Weak transcription	Ovary	ovary
41	chr11:72518800-72521800	Strong transcription	Fetal Stomach	stomach
42	chr11:72518800-72522800	Weak transcription	Lung	lung
43	chr11:72518800-72522800	Weak transcription	HSMM	muscle
44	chr11:72519000-72523000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:72519000-72523600	Weak transcription	K562	blood
46	chr11:72519200-72521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:72519200-72523200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:72519200-72523200	Weak transcription	HUVEC	blood vessel
49	chr11:72519400-72521800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:72519400-72522000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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