Variant report

Variant	rs12416943
Chromosome Location	chr11:45830956-45830957
allele	C/T
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	chr11:45830767-45831970	Hela-S3	cervix:	n/a	n/a
2	MAX	chr11:45830826-45831224	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45817293..45819860-chr11:45829600..45831462,2	K562	blood:
2	chr11:45829927..45832919-chr11:45833481..45836427,3	K562	blood:
3	chr11:45828332..45831158-chr11:86511150..86513181,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255447	TF binding region
ENSG00000150687	Chromatin interaction
ENSG00000255447	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10838516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607182	0.85[AFR][1000 genomes]
rs11607883	0.81[AFR][1000 genomes]
rs34043764	0.85[AFR][1000 genomes]
rs7112505	0.81[AFR][1000 genomes]
rs7935034	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45827600-45831600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:45827800-45832400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:45828000-45831000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:45828000-45831200	Genic enhancers	Fetal Muscle Leg	muscle
5	chr11:45828000-45831400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:45828000-45831800	Genic enhancers	Fetal Muscle Trunk	muscle
7	chr11:45828000-45832400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:45828000-45832400	Genic enhancers	Lung	lung
9	chr11:45828000-45833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:45828000-45834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:45828000-45837200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:45828000-45837200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:45828200-45831000	Enhancers	Fetal Brain Male	brain
14	chr11:45828200-45832000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:45828200-45833000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:45828400-45833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:45828600-45831200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:45828600-45831400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:45828600-45831800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:45828600-45831800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:45828600-45832000	Genic enhancers	Spleen	Spleen
22	chr11:45828600-45832200	Genic enhancers	Placenta	Placenta
23	chr11:45828600-45832400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:45828600-45834000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:45828800-45832400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:45829200-45832400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:45829200-45833000	Strong transcription	A549	lung
28	chr11:45829200-45835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:45829400-45831000	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr11:45829400-45831800	Weak transcription	Fetal Thymus	thymus
31	chr11:45829400-45832000	Weak transcription	Fetal Lung	lung
32	chr11:45829400-45833000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:45829400-45833600	Weak transcription	NHDF-Ad	bronchial
34	chr11:45829600-45831200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:45829600-45831200	Weak transcription	NH-A	brain
36	chr11:45829600-45831400	Strong transcription	NHEK	skin
37	chr11:45829600-45831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:45829600-45831600	Weak transcription	Brain Anterior Caudate	brain
39	chr11:45829600-45831600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:45829600-45831800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:45829600-45832000	Genic enhancers	Fetal Brain Female	brain
42	chr11:45829600-45832000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:45829600-45832200	Weak transcription	Aorta	Aorta
44	chr11:45829600-45832200	Weak transcription	Thymus	Thymus
45	chr11:45829600-45832400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:45829600-45832400	Genic enhancers	Liver	Liver
47	chr11:45829600-45832400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:45829600-45832400	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:45829600-45832400	Weak transcription	Psoas Muscle	Psoas
50	chr11:45829600-45832600	Weak transcription	Brain Angular Gyrus	brain

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