Variant report

Variant	rs2271326
Chromosome Location	chr2:54864964-54864965
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: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17046063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17046066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796016	0.89[ASN][1000 genomes]
rs56695142	0.89[ASN][1000 genomes]
rs60939675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72920540	0.89[ASN][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	chr2:54839200-54866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:54846600-54898000	Strong transcription	Dnd41	blood
10	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:54847400-54865800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:54848000-54868800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:54848600-54892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:54857000-54869400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:54857000-54883400	Strong transcription	Hela-S3	cervix
16	chr2:54859400-54873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:54860400-54865800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:54860400-54872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:54860600-54865800	Strong transcription	HepG2	liver
20	chr2:54860800-54866400	Genic enhancers	Primary B cells from cord blood	blood
21	chr2:54861800-54898600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:54862000-54865600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:54862200-54865000	Weak transcription	Small Intestine	intestine
24	chr2:54862200-54867800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:54862200-54896600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:54862400-54865600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:54862400-54865800	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr2:54862400-54892800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:54862600-54865000	Enhancers	Fetal Heart	heart
30	chr2:54862600-54865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:54862600-54865800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:54862600-54866000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:54862600-54866800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:54862600-54869800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:54862600-54892400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:54862600-54892400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:54862600-54893400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:54862600-54898400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:54862800-54865200	Strong transcription	Fetal Intestine Small	intestine
40	chr2:54863000-54865000	Genic enhancers	A549	lung
41	chr2:54863000-54865000	Genic enhancers	GM12878-XiMat	blood
42	chr2:54863000-54865400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:54863000-54866800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:54863000-54868200	Strong transcription	Fetal Intestine Large	intestine
45	chr2:54863000-54892000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr2:54863000-54892200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:54863000-54892400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:54863000-54895000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:54863000-54898600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:54863000-54899400	Strong transcription	Primary T cells from cord blood	blood

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