Variant report

Variant	rs2444031
Chromosome Location	chr15:43746824-43746825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	15:43745079-43748109..15:43782117-43785993	GM12878	blood:

Variant related genes	Relation type
ENSG00000067369	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1814540	1.00[EUR][1000 genomes]
rs2245161	1.00[EUR][1000 genomes]
rs2247734	1.00[EUR][1000 genomes]
rs2249948	1.00[EUR][1000 genomes]
rs2264048	1.00[EUR][1000 genomes]
rs2264051	1.00[EUR][1000 genomes]
rs2444248	1.00[EUR][1000 genomes]
rs2447200	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs28370962	1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs492046	1.00[EUR][1000 genomes]
rs4924721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs509037	1.00[EUR][1000 genomes]
rs509197	1.00[EUR][1000 genomes]
rs545430	1.00[EUR][1000 genomes]
rs555252	1.00[EUR][1000 genomes]
rs558010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559805	1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs573201	1.00[EUR][1000 genomes]
rs575304	1.00[EUR][1000 genomes]
rs59083674	1.00[EUR][1000 genomes]
rs656473	1.00[EUR][1000 genomes]
rs689735	1.00[EUR][1000 genomes]
rs690262	1.00[EUR][1000 genomes]
rs7173990	1.00[EUR][1000 genomes]
rs74009133	1.00[EUR][1000 genomes]
rs933942	1.00[EUR][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	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43700000-43748400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:43713600-43750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:43714000-43748200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr15:43715000-43747600	Weak transcription	Right Ventricle	heart
5	chr15:43715600-43748200	Weak transcription	Colonic Mucosa	Colon
6	chr15:43725000-43747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:43725000-43748600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:43725000-43748800	Weak transcription	Esophagus	oesophagus
9	chr15:43726400-43748600	Weak transcription	Psoas Muscle	Psoas
10	chr15:43726400-43769600	Weak transcription	Fetal Heart	heart
11	chr15:43730600-43748000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:43730600-43748000	Weak transcription	Aorta	Aorta
13	chr15:43730600-43748000	Weak transcription	Fetal Brain Male	brain
14	chr15:43730600-43765600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr15:43730600-43766800	Weak transcription	Small Intestine	intestine
16	chr15:43731200-43761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:43731800-43748000	Weak transcription	Spleen	Spleen
18	chr15:43731800-43752000	Weak transcription	Pancreas	Pancrea
19	chr15:43733800-43747800	Weak transcription	Brain Angular Gyrus	brain
20	chr15:43733800-43748000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:43733800-43748400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:43733800-43748600	Weak transcription	A549	lung
23	chr15:43734000-43748200	Weak transcription	Brain Substantia Nigra	brain
24	chr15:43734200-43748000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:43734200-43748000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr15:43734200-43748000	Weak transcription	HMEC	breast
27	chr15:43734200-43780000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:43734200-43780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:43736000-43748000	Weak transcription	K562	blood
30	chr15:43737000-43748200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:43738600-43747400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:43739000-43747600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:43739000-43748000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr15:43739200-43747000	Weak transcription	Thymus	Thymus
35	chr15:43739200-43747200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:43739200-43747400	Weak transcription	NHDF-Ad	bronchial
37	chr15:43739200-43747600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:43739200-43747800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr15:43739200-43747800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:43739200-43748000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:43739200-43748000	Weak transcription	Adipose Nuclei	Adipose
42	chr15:43739200-43748000	Weak transcription	Liver	Liver
43	chr15:43739200-43748000	Weak transcription	Brain Anterior Caudate	brain
44	chr15:43739200-43748000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr15:43739200-43748000	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:43739200-43748000	Weak transcription	Fetal Lung	lung
47	chr15:43739200-43748000	Weak transcription	Gastric	stomach
48	chr15:43739200-43748000	Weak transcription	Ovary	ovary
49	chr15:43739200-43748000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr15:43739200-43748000	Weak transcription	GM12878-XiMat	blood

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