Variant report

Variant	rs12092350
Chromosome Location	chr1:113123319-113123320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113120348..113122221-chr1:113122499..113124584,2	K562	blood:
2	chr1:113120564..113122444-chr1:113122780..113125014,2	MCF-7	breast:
3	chr1:113122500..113125301-chr1:113129408..113131758,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11102493	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12086087	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41283058	1.00[EUR][1000 genomes]
rs41306191	1.00[EUR][1000 genomes]
rs45626331	1.00[EUR][1000 genomes]
rs72982508	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7538730	0.88[AFR][1000 genomes];1.00[EUR][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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113060200-113132400	Weak transcription	Pancreas	Pancrea
2	chr1:113064400-113132200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:113066000-113132200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:113070600-113132400	Weak transcription	Aorta	Aorta
5	chr1:113081200-113132200	Weak transcription	Primary B cells from cord blood	blood
6	chr1:113081400-113132400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:113081800-113132200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:113084000-113131400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:113084800-113137000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:113087600-113125800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:113088400-113132200	Weak transcription	HMEC	breast
12	chr1:113092000-113151200	Weak transcription	Colonic Mucosa	Colon
13	chr1:113105400-113129800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:113109000-113160000	Weak transcription	Gastric	stomach
15	chr1:113109200-113152600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:113111000-113131000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:113111800-113138800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:113112000-113128200	Strong transcription	Liver	Liver
19	chr1:113112600-113131800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:113113200-113124400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:113113200-113132400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:113113800-113124400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:113114400-113124600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:113115000-113128800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:113115200-113123800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:113115200-113130200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:113115400-113123800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:113115400-113154200	Weak transcription	Esophagus	oesophagus
29	chr1:113115800-113130800	Weak transcription	Fetal Brain Male	brain
30	chr1:113115800-113160000	Weak transcription	Small Intestine	intestine
31	chr1:113116000-113132400	Weak transcription	Thymus	Thymus
32	chr1:113116400-113160000	Weak transcription	Spleen	Spleen
33	chr1:113116800-113124800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:113117000-113132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:113117200-113125600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:113117200-113132200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:113117200-113132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:113117400-113124000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:113117400-113125000	Strong transcription	Adipose Nuclei	Adipose
40	chr1:113117400-113132200	Weak transcription	GM12878-XiMat	blood
41	chr1:113117800-113124600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:113118000-113160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:113118400-113132400	Weak transcription	Brain Substantia Nigra	brain
44	chr1:113118600-113123800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:113118600-113132200	Weak transcription	A549	lung
46	chr1:113118800-113124800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:113118800-113126800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:113118800-113131200	Weak transcription	Brain Angular Gyrus	brain
49	chr1:113118800-113132200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:113118800-113160400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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