Variant report

Variant	rs2912217
Chromosome Location	chr15:72637215-72637216
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	chr15:72631785..72633348-chr15:72635376..72637584,2	K562	blood:
2	chr15:72635873..72639008-chr15:72766396..72768888,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261423	Chromatin interaction
ENSG00000166233	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11632505	0.84[AMR][1000 genomes]
rs12441854	0.91[AMR][1000 genomes]
rs1800431	1.00[AMR][1000 genomes]
rs2912214	0.91[AMR][1000 genomes]
rs2959909	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2959911	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4265763	1.00[AMR][1000 genomes]
rs4777502	1.00[AMR][1000 genomes]
rs8037749	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72613200-72651000	Weak transcription	Stomach Mucosa	stomach
2	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
3	chr15:72613400-72638000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr15:72613400-72667600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:72614000-72642400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:72619800-72637600	Weak transcription	Psoas Muscle	Psoas
7	chr15:72627800-72650400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:72629200-72649600	Strong transcription	Left Ventricle	heart
9	chr15:72629800-72649200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:72630000-72649200	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:72630200-72656200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:72631000-72641400	Weak transcription	Fetal Brain Male	brain
13	chr15:72631400-72640000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:72632400-72638000	Weak transcription	Small Intestine	intestine
15	chr15:72632400-72650000	Weak transcription	Right Atrium	heart
16	chr15:72632600-72637800	Strong transcription	Fetal Intestine Small	intestine
17	chr15:72632600-72637800	Weak transcription	NHEK	skin
18	chr15:72632600-72649600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:72632800-72649400	Strong transcription	Adipose Nuclei	Adipose
20	chr15:72633000-72637600	Weak transcription	HUVEC	blood vessel
21	chr15:72633000-72637800	Weak transcription	NHDF-Ad	bronchial
22	chr15:72633000-72640800	Weak transcription	K562	blood
23	chr15:72633000-72642800	Weak transcription	HMEC	breast
24	chr15:72633000-72650400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr15:72633000-72651200	Strong transcription	Thymus	Thymus
26	chr15:72633000-72652000	Strong transcription	Fetal Stomach	stomach
27	chr15:72633400-72637600	Strong transcription	Fetal Intestine Large	intestine
28	chr15:72633400-72649400	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr15:72633400-72651600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:72633600-72645800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:72633600-72648200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr15:72633600-72648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr15:72633600-72649200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr15:72633600-72649200	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr15:72633600-72649400	Strong transcription	Fetal Muscle Leg	muscle
36	chr15:72633600-72649400	Strong transcription	Lung	lung
37	chr15:72633600-72650000	Strong transcription	Brain Cingulate Gyrus	brain
38	chr15:72633600-72650400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:72633800-72645400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:72633800-72649400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr15:72633800-72651200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr15:72634000-72644200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:72634000-72649200	Strong transcription	Fetal Brain Female	brain
44	chr15:72634000-72649400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:72634000-72649400	Strong transcription	Spleen	Spleen
46	chr15:72634000-72649800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:72634000-72650000	Strong transcription	Liver	Liver
48	chr15:72634000-72650800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr15:72634200-72645200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:72634200-72649200	Strong transcription	Placenta	Placenta

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