Variant report

Variant	rs34505638
Chromosome Location	chr11:57070785-57070786
allele	A/C
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	chr11:57070759-57071031	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr11:57070760-57070910	WERI-Rb-1	eye:	n/a	n/a
3	POLR2A	chr11:57070441-57070938	U87	brain:	n/a	n/a
4	POLR2A	chr11:57070365-57072143	U87	brain:	n/a	n/a
5	POLR2A	chr11:57070516-57070845	PFSK-1	brain:	n/a	n/a
6	RAD21	chr11:57070782-57070997	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:57070780-57070930	WERI-Rb-1	eye:	n/a	n/a
8	USF2	chr11:57070746-57070889	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:57070538-57071022	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:57070780-57070930	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr11:57070760-57070910	HEK293	kidney:	n/a	n/a
12	CTCF	chr11:57070760-57070910	NHEK	skin:	n/a	n/a
13	POLR2A	chr11:57070688-57070933	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:57070635-57070805	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57070443..57073281-chr11:57104289..57106679,2	MCF-7	breast:

Variant related genes	Relation type
TNKS1BP1	TF binding region
ENSG00000109991	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1124846	1.00[AFR][1000 genomes]
rs12417609	1.00[AFR][1000 genomes]
rs12417875	1.00[AFR][1000 genomes]
rs12574780	0.93[AMR][1000 genomes]
rs12576471	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12785770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12786396	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12787728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12789789	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12792413	1.00[AFR][1000 genomes]
rs12797375	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12798121	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12799582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12800182	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12800196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12800402	1.00[AFR][1000 genomes]
rs12801000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12803405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12804022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806656	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12806978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12807593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808495	1.00[AFR][1000 genomes]
rs12808784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808788	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12808989	1.00[EUR][1000 genomes]
rs17145552	1.00[AFR][1000 genomes]
rs17145556	1.00[AFR][1000 genomes]
rs17151664	1.00[AFR][1000 genomes]
rs17151671	1.00[AFR][1000 genomes]
rs17151841	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17564188	1.00[AFR][1000 genomes]
rs17651297	1.00[AFR][1000 genomes]
rs17651573	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1806823	1.00[AFR][1000 genomes]
rs1939488	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941034	1.00[AFR][1000 genomes]
rs1941054	1.00[AFR][1000 genomes]
rs1943485	1.00[AFR][1000 genomes]
rs2077188	1.00[AFR][1000 genomes]
rs2156457	1.00[AFR][1000 genomes]
rs2156458	1.00[AFR][1000 genomes]
rs2156460	1.00[AFR][1000 genomes]
rs2212608	1.00[AFR][1000 genomes]
rs2230648	0.85[AMR][1000 genomes]
rs2511025	0.93[AMR][1000 genomes]
rs2846046	0.93[AMR][1000 genomes]
rs2851723	0.93[AMR][1000 genomes]
rs34014874	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34069781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34076116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34085089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34458685	1.00[AFR][1000 genomes]
rs34498883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34544917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34572680	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34704777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34742309	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs34754262	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34761603	1.00[AFR][1000 genomes]
rs34769912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34850337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34905018	1.00[AFR][1000 genomes]
rs34985061	1.00[AFR][1000 genomes]
rs35272228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35284031	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35366909	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35388927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35407832	0.85[AMR][1000 genomes]
rs35536636	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs35566323	1.00[AFR][1000 genomes]
rs35707583	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35721601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818468	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35845551	1.00[AFR][1000 genomes]
rs35943801	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35950335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35980006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35991636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36090449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs499885	0.86[AMR][1000 genomes]
rs558266	0.86[AMR][1000 genomes]
rs578831	0.86[AMR][1000 genomes]
rs655402	0.86[AMR][1000 genomes]
rs656366	0.86[AMR][1000 genomes]
rs6591419	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670919	0.86[AMR][1000 genomes]
rs71484414	1.00[AFR][1000 genomes]
rs71484419	1.00[AFR][1000 genomes]
rs71484422	1.00[AFR][1000 genomes]
rs71484424	1.00[AFR][1000 genomes]
rs71484425	1.00[AFR][1000 genomes]
rs71484428	1.00[AFR][1000 genomes]
rs71484429	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484430	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs71484431	1.00[AFR][1000 genomes]
rs71484432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71484433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71484437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71484440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484443	0.81[EUR][1000 genomes]
rs71484444	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs71484445	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs71484446	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs717117	1.00[AFR][1000 genomes]
rs746885	1.00[AFR][1000 genomes]
rs948843	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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57052400-57078200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57063600-57070800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:57063600-57071200	Strong transcription	HSMM	muscle
4	chr11:57064000-57071400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:57064200-57071600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:57064200-57071600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:57064800-57071200	ZNF genes & repeats	Fetal Stomach	stomach
8	chr11:57064800-57071200	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr11:57064800-57071600	Strong transcription	Osteobl	bone
10	chr11:57064800-57072000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:57065000-57071000	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr11:57065000-57071800	Strong transcription	NHLF	lung
13	chr11:57065200-57070800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:57065200-57070800	Strong transcription	HSMMtube	muscle
15	chr11:57065200-57071000	Strong transcription	NHEK	skin
16	chr11:57065600-57071200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:57065800-57071400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:57066000-57070800	Strong transcription	Brain Cingulate Gyrus	brain
19	chr11:57066200-57070800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:57066400-57071400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr11:57066600-57071200	Strong transcription	Hela-S3	cervix
22	chr11:57066800-57070800	Strong transcription	HepG2	liver
23	chr11:57067000-57071000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:57067000-57071000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr11:57067200-57070800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr11:57067200-57071000	Strong transcription	Brain Anterior Caudate	brain
27	chr11:57067200-57071000	Strong transcription	Brain Hippocampus Middle	brain
28	chr11:57067200-57071000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:57067200-57071600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:57067200-57078400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:57067400-57070800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:57067400-57078400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:57067400-57079000	Weak transcription	Primary B cells from cord blood	blood
34	chr11:57067600-57071000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:57067600-57071000	Strong transcription	Stomach Mucosa	stomach
36	chr11:57067600-57071600	Strong transcription	Fetal Brain Female	brain
37	chr11:57067600-57072400	Strong transcription	Right Ventricle	heart
38	chr11:57067600-57078400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:57067800-57070800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:57067800-57070800	Strong transcription	Gastric	stomach
41	chr11:57067800-57071000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:57067800-57071000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:57067800-57071200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:57067800-57071200	Strong transcription	Rectal Smooth Muscle	rectum
45	chr11:57067800-57071400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:57067800-57073200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:57067800-57078000	Weak transcription	Fetal Heart	heart
48	chr11:57067800-57078400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:57068000-57070800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:57068000-57071000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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