Variant report

Variant	rs17224451
Chromosome Location	chr2:47673097-47673098
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47666951..47669925-chr2:47671168..47674858,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13384795	1.00[EUR][1000 genomes]
rs17217905	1.00[EUR][1000 genomes]
rs17218097	0.92[AFR][1000 genomes]
rs17218153	1.00[AFR][1000 genomes]
rs17218391	1.00[AFR][1000 genomes]
rs17218405	1.00[AFR][1000 genomes]
rs17224514	1.00[AFR][1000 genomes]
rs17224549	1.00[AFR][1000 genomes]
rs17224969	1.00[AFR][1000 genomes]
rs17224990	1.00[AFR][1000 genomes]
rs72872828	1.00[EUR][1000 genomes]
rs72888285	1.00[EUR][1000 genomes]
rs73927790	1.00[EUR][1000 genomes]
rs73929210	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv527823	chr2:47645249-47709704	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
3	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
4	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
5	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
6	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:47643600-47703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:47644800-47692000	Weak transcription	Fetal Brain Male	brain
9	chr2:47655600-47682800	Weak transcription	Stomach Mucosa	stomach
10	chr2:47658000-47674800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:47658000-47690400	Weak transcription	NHEK	skin
12	chr2:47658000-47707000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:47658000-47714200	Weak transcription	Small Intestine	intestine
14	chr2:47658200-47674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:47658200-47690200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:47658200-47690400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:47658200-47690400	Weak transcription	Left Ventricle	heart
18	chr2:47658200-47690600	Weak transcription	Brain Anterior Caudate	brain
19	chr2:47658200-47691000	Weak transcription	Gastric	stomach
20	chr2:47658200-47692600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:47658200-47692600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:47658200-47709200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:47658200-47710400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:47658200-47713400	Weak transcription	Fetal Heart	heart
25	chr2:47658200-47714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:47658200-47714800	Weak transcription	HSMMtube	muscle
27	chr2:47658200-47724800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:47658400-47690200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:47658400-47690200	Weak transcription	Fetal Kidney	kidney
30	chr2:47658400-47690200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:47658400-47690400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:47658400-47690400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:47658400-47690400	Weak transcription	Placenta	Placenta
34	chr2:47658400-47690600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:47658400-47690800	Weak transcription	HSMM	muscle
36	chr2:47658400-47691000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:47658400-47695200	Weak transcription	NHLF	lung
38	chr2:47658400-47713600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:47658400-47716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:47658800-47712600	Weak transcription	Osteobl	bone
41	chr2:47659000-47674400	Weak transcription	Ovary	ovary
42	chr2:47659000-47690400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:47659400-47675200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:47659600-47690400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:47660800-47673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:47661200-47679400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:47661400-47679400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:47661600-47684200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:47661800-47690400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:47661800-47692200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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