Variant report

Variant	rs2098386
Chromosome Location	chr2:37456032-37456033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr2:37455984-37456240	GM12878	blood:	n/a	n/a
2	SPI1	chr2:37455936-37456306	HL-60	blood:	n/a	n/a
3	SPI1	chr2:37456006-37456214	K562	blood:	n/a	n/a
4	SPI1	chr2:37455974-37456198	GM12891	blood:	n/a	n/a
5	SPI1	chr2:37455981-37456247	GM12891	blood:	n/a	n/a
6	SPI1	chr2:37455846-37456373	HL-60	blood:	n/a	n/a
7	SPI1	chr2:37456010-37456221	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:37415796..37419899-chr2:37451896..37456722,5	K562	blood:
2	chr2:37455061..37456837-chr2:37463008..37464673,2	MCF-7	breast:
3	chr2:37454643..37457253-chr2:37471723..37474607,2	K562	blood:
4	chr2:37455370..37456889-chr2:37465153..37467746,2	MCF-7	breast:
5	chr2:37427347..37429134-chr2:37454276..37457065,3	MCF-7	breast:
6	chr2:37422594..37426591-chr2:37455893..37460210,5	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFAF7	TF binding region
ENSG00000218739	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000003509	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10181140	1.00[ASW][hapmap];0.93[CEU][hapmap]
rs2465489	0.89[AFR][1000 genomes]
rs2540975	0.83[CEU][hapmap]
rs2714474	1.00[ASW][hapmap];0.93[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2098386	PRKD3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37436800-37456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37437200-37456600	Weak transcription	Stomach Mucosa	stomach
3	chr2:37439800-37456600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:37448400-37456600	Weak transcription	Aorta	Aorta
5	chr2:37448400-37456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:37448400-37457800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:37448800-37456600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:37452400-37456600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:37453400-37456200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
10	chr2:37453400-37456200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:37453400-37456200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:37453400-37456200	Strong transcription	HSMM	muscle
13	chr2:37453400-37456400	Strong transcription	Primary B cells from cord blood	blood
14	chr2:37453400-37456400	Genic enhancers	HepG2	liver
15	chr2:37453400-37456600	Genic enhancers	K562	blood
16	chr2:37453400-37457600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
17	chr2:37453600-37456200	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:37453600-37456200	Strong transcription	NHLF	lung
19	chr2:37453600-37456600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:37453600-37456600	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:37453600-37456600	Genic enhancers	Dnd41	blood
22	chr2:37453800-37456200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:37453800-37456600	Genic enhancers	Hela-S3	cervix
24	chr2:37454000-37456200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:37454000-37456200	Strong transcription	Fetal Stomach	stomach
26	chr2:37454200-37456200	Strong transcription	NHDF-Ad	bronchial
27	chr2:37454200-37456800	Weak transcription	Small Intestine	intestine
28	chr2:37454400-37456200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr2:37454400-37456400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:37454400-37456600	Strong transcription	Ovary	ovary
31	chr2:37454400-37456600	Weak transcription	Right Atrium	heart
32	chr2:37454600-37456400	Genic enhancers	GM12878-XiMat	blood
33	chr2:37454800-37456200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:37454800-37456600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:37455000-37456600	Weak transcription	Fetal Heart	heart
36	chr2:37455400-37456200	Genic enhancers	Primary T cells from cord blood	blood
37	chr2:37455400-37456400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:37455400-37456600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:37455400-37456600	Strong transcription	A549	lung
40	chr2:37455600-37456400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:37455600-37456600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr2:37455600-37456600	Weak transcription	Brain Germinal Matrix	brain
43	chr2:37455600-37456600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:37455600-37456800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:37455600-37456800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:37455600-37457000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:37455800-37456200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:37455800-37456200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:37455800-37456400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:37455800-37456400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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