Variant report

Variant	rs55758018
Chromosome Location	chr12:10995558-10995559
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10994716..10997527-chr12:11072038..11073829,2	K562	blood:
2	chr12:10994480..10997147-chr12:11004836..11006507,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2418107	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57309916	1.00[AMR][1000 genomes]
rs57629882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060686	1.00[AMR][1000 genomes]
rs74060695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74062406	1.00[AMR][1000 genomes]
rs74062410	1.00[AMR][1000 genomes]
rs74062417	1.00[AMR][1000 genomes]
rs74062419	1.00[AMR][1000 genomes]
rs74062421	1.00[AMR][1000 genomes]
rs74062424	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv898776	chr12:10909412-11032045	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10973600-11009600	Weak transcription	HSMM	muscle
2	chr12:10988400-11006000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10988400-11008400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:10988600-10995600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:10988800-11001600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:10989200-10999200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:10989200-11008600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:10989400-10995800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:10989400-11008200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:10989600-10999600	Weak transcription	Primary T cells from cord blood	blood
11	chr12:10989800-10995600	Weak transcription	Ovary	ovary
12	chr12:10989800-10999400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:10989800-10999600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:10990000-10999200	Weak transcription	Pancreas	Pancrea
15	chr12:10990000-11003800	Weak transcription	Right Ventricle	heart
16	chr12:10990000-11004000	Weak transcription	Fetal Heart	heart
17	chr12:10990000-11005400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:10990000-11005400	Weak transcription	Psoas Muscle	Psoas
19	chr12:10990000-11008400	Weak transcription	Fetal Lung	lung
20	chr12:10990200-10999200	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:10990200-11008400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:10991200-10999200	Weak transcription	Fetal Stomach	stomach
23	chr12:10991200-11000200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:10991200-11007800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:10991200-11008000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:10991400-11010800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:10991600-11002000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:10993200-11008000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:10993600-11007600	Weak transcription	Fetal Intestine Small	intestine
30	chr12:10993800-10999200	Weak transcription	Gastric	stomach
31	chr12:10993800-10999400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:10993800-11008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:10994000-10997000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:10994000-10999600	Weak transcription	Dnd41	blood
35	chr12:10994000-11003800	Weak transcription	Primary B cells from cord blood	blood
36	chr12:10994000-11003800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:10994000-11007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:10994000-11008000	Weak transcription	Brain Germinal Matrix	brain
39	chr12:10994000-11008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:10994000-11008400	Weak transcription	Brain Substantia Nigra	brain
41	chr12:10994000-11008400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:10994200-10999400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:10994200-11002200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:10994200-11006000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:10994200-11008400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:10994200-11008400	Weak transcription	Thymus	Thymus
47	chr12:10994200-11008400	Weak transcription	HepG2	liver
48	chr12:10994200-11008600	Weak transcription	Spleen	Spleen
49	chr12:10994400-10999800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:10994400-11001600	Weak transcription	Placenta	Placenta

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