Variant report

Variant	rs1982038
Chromosome Location	chr11:72555545-72555546
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	chr11:72555416-72555579	ProgFib	skin:	n/a	n/a
2	EP300	chr11:72555424-72555727	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr11:72555480-72555630	AG09319	gingival:	n/a	n/a
4	MXI1	chr11:72555020-72556184	IMR90	lung:	n/a	n/a
5	RAD21	chr11:72555483-72555680	SK-N-SH_RA	brain:	n/a	n/a
6	POLR2A	chr11:72555146-72555669	GM12878	blood:	n/a	n/a
7	MXI1	chr11:72555213-72555904	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72406657..72408586-chr11:72553691..72556576,2	MCF-7	breast:

Variant related genes	Relation type
FCHSD2	TF binding region
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 61 )
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]
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]
rs7948244	1.00[YRI][hapmap];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:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr11:72540600-72589800	Strong transcription	Primary B cells from cord blood	blood
3	chr11:72541600-72558400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:72543000-72556400	Weak transcription	K562	blood
5	chr11:72543200-72555600	Strong transcription	Fetal Thymus	thymus
6	chr11:72543200-72556800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:72543200-72558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:72543200-72562200	Weak transcription	A549	lung
9	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
10	chr11:72543400-72560800	Strong transcription	GM12878-XiMat	blood
11	chr11:72543400-72603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:72545200-72561000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:72546000-72555600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:72546000-72555800	Strong transcription	Thymus	Thymus
15	chr11:72546000-72557000	Strong transcription	Primary T cells from cord blood	blood
16	chr11:72546000-72557200	Strong transcription	HepG2	liver
17	chr11:72546000-72557600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:72546000-72558000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:72546000-72558600	Strong transcription	Liver	Liver
20	chr11:72546400-72555600	Strong transcription	Dnd41	blood
21	chr11:72546400-72557800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:72546600-72561000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:72546800-72559200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:72546800-72561400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:72547200-72555600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr11:72547400-72555600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:72547400-72561200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:72547600-72555600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:72547600-72555600	Genic enhancers	Osteobl	bone
30	chr11:72548000-72559600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:72548200-72556000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr11:72548400-72561000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:72548400-72561000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:72548600-72555600	Strong transcription	Brain Angular Gyrus	brain
35	chr11:72549000-72557600	Strong transcription	Lung	lung
36	chr11:72549600-72558400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:72550000-72600400	Weak transcription	Pancreas	Pancrea
38	chr11:72550600-72555600	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:72550800-72556000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:72550800-72556600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:72551200-72563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:72551400-72556800	Enhancers	NHDF-Ad	bronchial
43	chr11:72551600-72556400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:72551800-72556800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:72552000-72556200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:72552000-72567000	Weak transcription	NH-A	brain
47	chr11:72552200-72555600	Weak transcription	Hela-S3	cervix
48	chr11:72552200-72562000	Weak transcription	Esophagus	oesophagus
49	chr11:72552200-72575400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:72552200-72580400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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