Variant report

Variant	rs17344308
Chromosome Location	chr2:54866074-54866075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54864735..54867892-chr2:54868332..54870818,3	K562	blood:
2	chr2:54859857..54861976-chr2:54864372..54866931,2	K562	blood:
3	chr2:54783722..54786543-chr2:54864491..54866571,2	K562	blood:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10181201	0.82[CEU][hapmap]
rs13405115	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17343918	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs17344134	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17344169	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17344176	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17344287	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17344343	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17415829	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17415857	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17416130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17416291	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17416364	1.00[CEU][hapmap]
rs17416820	0.87[EUR][1000 genomes]
rs17521468	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521510	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17580255	1.00[CEU][hapmap]
rs17580855	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17580876	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1804472	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796015	0.91[EUR][1000 genomes]
rs41281495	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41281497	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4258834	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440005	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57810131	0.80[EUR][1000 genomes]
rs58143357	0.80[EUR][1000 genomes]
rs59228485	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61480394	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6755737	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911560	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72911563	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:54846600-54898000	Strong transcription	Dnd41	blood
9	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:54848000-54868800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:54848600-54892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:54857000-54869400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:54857000-54883400	Strong transcription	Hela-S3	cervix
14	chr2:54859400-54873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:54860400-54872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:54860800-54866400	Genic enhancers	Primary B cells from cord blood	blood
17	chr2:54861800-54898600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:54862200-54867800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:54862200-54896600	Strong transcription	Primary hematopoietic stem cells	blood
20	chr2:54862400-54892800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:54862600-54866800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:54862600-54869800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:54862600-54892400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:54862600-54892400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:54862600-54893400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:54862600-54898400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:54863000-54866800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:54863000-54868200	Strong transcription	Fetal Intestine Large	intestine
29	chr2:54863000-54892000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:54863000-54892200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:54863000-54892400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:54863000-54895000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:54863000-54898600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:54863000-54899400	Strong transcription	Primary T cells from cord blood	blood
35	chr2:54863200-54867800	Strong transcription	Brain Germinal Matrix	brain
36	chr2:54863200-54886200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:54863400-54867600	Genic enhancers	Muscle Satellite Cultured Cells	--
38	chr2:54863600-54866200	Strong transcription	HUVEC	blood vessel
39	chr2:54863600-54866400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:54863600-54866400	Strong transcription	NHEK	skin
41	chr2:54863600-54867400	Genic enhancers	Fetal Stomach	stomach
42	chr2:54863600-54868000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:54863600-54868600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:54863600-54879400	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr2:54863600-54897000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:54863800-54866400	Weak transcription	Psoas Muscle	Psoas
47	chr2:54863800-54868200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:54863800-54897400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:54863800-54898600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:54864000-54866400	Strong transcription	Fetal Thymus	thymus

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