Variant report

Variant	rs7947282
Chromosome Location	chr11:16924477-16924478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16924323..16927618-chr11:16930447..16932852,3	K562	blood:
2	chr11:16914855..16917197-chr11:16922400..16924904,3	MCF-7	breast:
3	chr11:16924323..16927213-chr11:16930206..16932852,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12418111	1.00[YRI][hapmap]
rs16933675	1.00[YRI][hapmap]
rs414992	1.00[YRI][hapmap]
rs428840	1.00[YRI][hapmap]
rs55967640	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56760592	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57046173	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59258722	0.81[AFR][1000 genomes]
rs60138646	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60844970	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60996031	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61617222	0.83[AFR][1000 genomes]
rs61708002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110334	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110592	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926392	0.85[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap]
rs7928860	1.00[MEX][hapmap]
rs7931046	0.80[YRI][hapmap]
rs7947562	0.90[YRI][hapmap]
rs7949886	1.00[MEX][hapmap]
rs7951117	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv7688	chr11:16912759-16939804	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2757425	chr11:16915291-16934130	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759805	chr11:16915291-16934130	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1038987	chr11:16916438-16927022	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2754709	chr11:16917219-16927022	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16914000-16927400	Weak transcription	HSMMtube	muscle
2	chr11:16916000-16931000	Weak transcription	Spleen	Spleen
3	chr11:16918200-16924800	Weak transcription	Colonic Mucosa	Colon
4	chr11:16919400-16927000	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:16919600-16925400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:16919800-16933600	Weak transcription	Fetal Kidney	kidney
7	chr11:16920400-16924600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:16920400-16927000	Weak transcription	Right Atrium	heart
9	chr11:16921600-16927000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:16921600-16927200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:16921800-16924800	Weak transcription	Left Ventricle	heart
12	chr11:16921800-16926600	Weak transcription	Gastric	stomach
13	chr11:16921800-16926600	Weak transcription	Pancreas	Pancrea
14	chr11:16921800-16927000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:16922000-16934000	Weak transcription	HepG2	liver
16	chr11:16922200-16927200	Weak transcription	Fetal Lung	lung
17	chr11:16922800-16925600	Enhancers	HMEC	breast
18	chr11:16923000-16924800	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:16923000-16925800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:16923000-16926000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:16923200-16925800	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:16923400-16925000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:16923400-16925000	Enhancers	NHEK	skin
24	chr11:16923400-16925600	Flanking Active TSS	GM12878-XiMat	blood
25	chr11:16923400-16926000	Enhancers	Stomach Mucosa	stomach
26	chr11:16923400-16927400	Enhancers	Fetal Intestine Large	intestine
27	chr11:16923600-16924800	Enhancers	A549	lung
28	chr11:16923600-16925400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr11:16923600-16925600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr11:16923600-16925800	Enhancers	Fetal Intestine Small	intestine
31	chr11:16923800-16927800	Enhancers	Fetal Heart	heart
32	chr11:16924000-16924600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:16924000-16924800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:16924200-16924600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:16924200-16925000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr11:16924200-16925000	Enhancers	Adipose Nuclei	Adipose
37	chr11:16924200-16925400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:16924200-16925600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:16924200-16926600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:16924200-16927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:16924400-16924600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:16924400-16924800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:16924400-16924800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:16924400-16924800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:16924400-16924800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr11:16924400-16924800	Weak transcription	Small Intestine	intestine
47	chr11:16924400-16924800	Flanking Active TSS	HUVEC	blood vessel
48	chr11:16924400-16925000	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:16924400-16925000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr11:16924400-16925200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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