Variant report

Variant	rs11829345
Chromosome Location	chr12:56832705-56832706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56831091..56839552-chr12:56841407..56847301,11	K562	blood:
2	chr12:56771075..56772732-chr12:56831499..56834377,2	K562	blood:
3	chr12:56831586..56833297-chr12:56838300..56841024,2	K562	blood:
4	chr12:56831567..56836567-chr12:56841369..56843567,6	K562	blood:
5	chr12:56831181..56832925-chr12:56855832..56858189,2	K562	blood:
6	chr12:56827738..56829538-chr12:56829816..56833638,4	K562	blood:
7	chr12:56824331..56826996-chr12:56831647..56834552,3	K562	blood:
8	chr12:56832209..56834419-chr12:56844389..56847772,3	K562	blood:
9	chr12:56727279..56730018-chr12:56830009..56833099,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135473	Chromatin interaction
ENSG00000111602	Chromatin interaction

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

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

rs_ID	r²[population]
rs11575215	1.00[AMR][1000 genomes]
rs17118651	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17118655	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57742941	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094726	1.00[AMR][1000 genomes]
rs774040	1.00[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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56811800-56842400	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:56813000-56842600	Weak transcription	Fetal Heart	heart
3	chr12:56813200-56841200	Weak transcription	Fetal Kidney	kidney
4	chr12:56813800-56842400	Weak transcription	Right Atrium	heart
5	chr12:56816200-56842400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:56816600-56836400	Weak transcription	HMEC	breast
7	chr12:56818800-56833200	Weak transcription	Left Ventricle	heart
8	chr12:56822600-56836000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:56822800-56836200	Weak transcription	Colonic Mucosa	Colon
10	chr12:56822800-56838000	Weak transcription	HUVEC	blood vessel
11	chr12:56825000-56833000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:56825400-56842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:56825800-56836600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:56826200-56842400	Weak transcription	NH-A	brain
15	chr12:56826400-56841800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:56826400-56842200	Weak transcription	HSMM	muscle
17	chr12:56826400-56842400	Weak transcription	NHDF-Ad	bronchial
18	chr12:56827200-56842600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:56827600-56836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:56827800-56836000	Weak transcription	NHEK	skin
21	chr12:56827800-56836800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:56827800-56836800	Weak transcription	Fetal Intestine Small	intestine
23	chr12:56827800-56837800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:56827800-56841200	Weak transcription	HepG2	liver
25	chr12:56827800-56841800	Weak transcription	Primary B cells from cord blood	blood
26	chr12:56827800-56841800	Weak transcription	Lung	lung
27	chr12:56827800-56842200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:56827800-56842400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:56827800-56842400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:56827800-56842400	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:56827800-56842400	Weak transcription	Fetal Stomach	stomach
32	chr12:56827800-56842400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:56827800-56842600	Weak transcription	Spleen	Spleen
34	chr12:56828000-56835000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:56828000-56836000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:56828000-56836000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:56828000-56836200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:56828000-56836400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:56828000-56841200	Weak transcription	A549	lung
40	chr12:56828000-56841200	Weak transcription	GM12878-XiMat	blood
41	chr12:56828000-56841400	Weak transcription	Liver	Liver
42	chr12:56828000-56842200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:56828000-56842400	Weak transcription	Fetal Thymus	thymus
44	chr12:56828000-56842400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:56828000-56842400	Weak transcription	Thymus	Thymus
46	chr12:56828200-56832800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:56828200-56834200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:56828200-56834400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:56828200-56834400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:56828200-56836000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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