Variant report

Variant	rs2465488
Chromosome Location	chr2:37425103-37425104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr2:37425084-37425425	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:37422936-37425300	HepG2	liver:	n/a	n/a
3	MEF2A	chr2:37425023-37425546	GM12878	blood:	n/a	n/a
4	PAX5	chr2:37425011-37425446	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:37424691-37426324	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr2:37425063-37425231	MCF-7	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37424938..37427231-chr2:37439674..37442605,2	K562	blood:
2	chr2:37382658..37387385-chr2:37421093..37425812,6	MCF-7	breast:
3	chr2:37424349..37426736-chr2:37447121..37449213,2	K562	blood:
4	chr2:37420975..37425403-chr2:37457376..37460314,8	K562	blood:
5	chr2:37422039..37425278-chr2:37456815..37459935,9	MCF-7	breast:
6	chr2:37423198..37425602-chr2:37457469..37460195,6	K562	blood:
7	chr2:37423528..37425114-chr2:37439961..37442863,2	MCF-7	breast:
8	chr2:37424470..37426028-chr2:37473797..37476717,2	K562	blood:
9	chr2:37381640..37387428-chr2:37421417..37425727,6	MCF-7	breast:
10	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:
11	chr2:37420171..37423121-chr2:37423446..37425110,2	K562	blood:

No data

Variant related genes	Relation type
SULT6B1	TF binding region
ENSG00000233159	TF binding region
ENSG00000218739	Chromatin interaction
ENSG00000055332	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000233159	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10177970	0.81[EUR][1000 genomes]
rs10779921	0.93[ASN][1000 genomes]
rs11124575	0.81[EUR][1000 genomes]
rs13409250	0.83[EUR][1000 genomes]
rs1861444	0.84[EUR][1000 genomes]
rs2041837	0.85[EUR][1000 genomes]
rs2041840	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2110962	0.81[EUR][1000 genomes]
rs2110964	0.85[EUR][1000 genomes]
rs2160391	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2160395	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2249965	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2372888	0.86[EUR][1000 genomes]
rs2430494	0.82[EUR][1000 genomes]
rs2540972	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2540973	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2540974	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2540977	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2714470	0.84[EUR][1000 genomes]
rs4670678	0.92[EUR][1000 genomes]
rs6544065	0.80[EUR][1000 genomes]
rs7583355	0.93[ASN][1000 genomes]
rs759461	0.83[EUR][1000 genomes]
rs7601628	0.83[EUR][1000 genomes]
rs7602924	0.81[EUR][1000 genomes]
rs8243	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37418600-37427200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:37423000-37425400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr2:37423200-37425400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:37423200-37425400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:37423200-37425600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:37423400-37425400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:37423400-37425600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:37423400-37425600	Active TSS	GM12878-XiMat	blood
9	chr2:37423600-37425600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:37423800-37425200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr2:37424400-37425200	Enhancers	Pancreas	Pancrea
12	chr2:37424400-37425200	Enhancers	Spleen	Spleen
13	chr2:37424400-37427600	Weak transcription	Lung	lung
14	chr2:37424400-37430800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:37424400-37433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:37424400-37446400	Weak transcription	Small Intestine	intestine
17	chr2:37424600-37425200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:37424600-37425200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:37424600-37425200	Flanking Active TSS	Colonic Mucosa	Colon
20	chr2:37424600-37425200	Enhancers	Left Ventricle	heart
21	chr2:37424600-37425200	Enhancers	Psoas Muscle	Psoas
22	chr2:37424600-37425200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:37424600-37425200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:37424600-37425200	Enhancers	Stomach Mucosa	stomach
25	chr2:37424600-37425600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:37424600-37425600	Enhancers	Fetal Muscle Leg	muscle
27	chr2:37424600-37425800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:37424600-37425800	Enhancers	Primary B cells from cord blood	blood
29	chr2:37424600-37426000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:37424600-37426000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:37424600-37426000	Enhancers	K562	blood
32	chr2:37424600-37426200	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:37424600-37426200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:37424600-37426200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:37424600-37426200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:37424600-37426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:37424600-37426400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:37424600-37426800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr2:37424600-37427200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:37424600-37429000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:37424600-37430400	Weak transcription	Fetal Heart	heart
42	chr2:37424600-37430600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:37424600-37430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:37424600-37430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:37424600-37430800	Weak transcription	Brain Angular Gyrus	brain
46	chr2:37424600-37430800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:37424600-37430800	Weak transcription	Gastric	stomach
48	chr2:37424800-37425200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:37424800-37425200	Enhancers	Primary hematopoietic stem cells	blood
50	chr2:37424800-37425200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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