Variant report

Variant	rs7947562
Chromosome Location	chr11:16853525-16853526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16850576..16853071-chr11:16853144..16856047,2	K562	blood:
2	chr11:16846104..16848619-chr11:16852223..16854917,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12418111	0.91[YRI][hapmap]
rs16933675	0.90[YRI][hapmap]
rs414992	0.91[YRI][hapmap]
rs428840	0.91[YRI][hapmap]
rs56329809	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56998902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61617222	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926392	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7930354	0.96[AFR][1000 genomes]
rs7931046	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs7947282	0.90[YRI][hapmap]

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	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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16813200-16871400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:16823000-16871400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:16836000-16861600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:16839200-16878800	Weak transcription	Thymus	Thymus
5	chr11:16842400-16862200	Weak transcription	Fetal Kidney	kidney
6	chr11:16842600-16853600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:16842600-16854200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:16842600-16855000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:16842600-16873400	Weak transcription	Hela-S3	cervix
10	chr11:16842800-16862200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:16843000-16874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:16844000-16862000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:16844400-16861200	Weak transcription	HMEC	breast
14	chr11:16845800-16855200	Strong transcription	HepG2	liver
15	chr11:16846200-16857800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:16846600-16874000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:16847000-16864000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:16847000-16871200	Weak transcription	Brain Substantia Nigra	brain
19	chr11:16847200-16871400	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:16847600-16857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:16847800-16865000	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:16847800-16871600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:16848000-16853800	Weak transcription	Right Atrium	heart
24	chr11:16848000-16854200	Weak transcription	Brain Anterior Caudate	brain
25	chr11:16848000-16862400	Weak transcription	Adipose Nuclei	Adipose
26	chr11:16848000-16863000	Weak transcription	Lung	lung
27	chr11:16848200-16853800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:16848200-16854200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:16848200-16854200	Weak transcription	Left Ventricle	heart
30	chr11:16848200-16854600	Weak transcription	Fetal Stomach	stomach
31	chr11:16848200-16854600	Weak transcription	Spleen	Spleen
32	chr11:16848200-16855000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:16848200-16857200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:16848200-16857600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:16848200-16861200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:16848200-16861400	Weak transcription	Ovary	ovary
37	chr11:16848200-16862400	Weak transcription	Esophagus	oesophagus
38	chr11:16848200-16863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:16848200-16871400	Weak transcription	Aorta	Aorta
40	chr11:16848200-16875200	Weak transcription	Right Ventricle	heart
41	chr11:16848400-16866600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:16848400-16878600	Weak transcription	Small Intestine	intestine
43	chr11:16848600-16868400	Weak transcription	HSMMtube	muscle
44	chr11:16849200-16861600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:16849800-16859400	Weak transcription	Gastric	stomach
46	chr11:16849800-16860200	Strong transcription	Fetal Intestine Large	intestine
47	chr11:16849800-16861200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:16849800-16865400	Strong transcription	Fetal Intestine Small	intestine
49	chr11:16849800-16871400	Weak transcription	Pancreas	Pancrea
50	chr11:16850400-16871200	Weak transcription	Fetal Brain Female	brain

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