Variant report

Variant	rs4268958
Chromosome Location	chr2:55365322-55365323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55343511..55346556-chr2:55364762..55366710,3	K562	blood:
2	chr2:55272140..55279868-chr2:55356344..55371606,28	K562	blood:
3	chr2:55276278..55278501-chr2:55364337..55366872,2	MCF-7	breast:
4	chr2:55322057..55324846-chr2:55364507..55366032,2	K562	blood:
5	chr2:55275938..55279901-chr2:55364740..55369438,15	K562	blood:
6	chr2:55362876..55365443-chr2:55367028..55369648,3	MCF-7	breast:
7	chr2:55363727..55366585-chr7:158919602..158922581,2	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1444261	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2920845	1.00[AFR][1000 genomes]
rs2920848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs2920849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs2920852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs2920853	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs2968784	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2968785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968803	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2972061	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4530400	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4672021	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6708596	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6747682	1.00[ASW][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4268958	FLJ31438	cis	multi-tissue	Pritchard

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55361200-55365400	Enhancers	Fetal Intestine Small	intestine
2	chr2:55361400-55366400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:55361400-55370200	Enhancers	Fetal Intestine Large	intestine
4	chr2:55361600-55365400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:55361600-55366000	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:55361600-55368200	Weak transcription	Esophagus	oesophagus
7	chr2:55361800-55366800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:55361800-55366800	Weak transcription	Hela-S3	cervix
9	chr2:55361800-55367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:55361800-55368000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:55361800-55368600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:55361800-55368800	Weak transcription	A549	lung
13	chr2:55361800-55373000	Weak transcription	HSMMtube	muscle
14	chr2:55361800-55378600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:55362000-55366600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:55362000-55366600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:55362200-55367600	Weak transcription	Dnd41	blood
18	chr2:55362200-55369000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:55362400-55368800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:55362800-55366000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:55362800-55366600	Enhancers	Placenta	Placenta
22	chr2:55363000-55366000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:55363000-55366200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:55363000-55366400	Enhancers	Fetal Brain Male	brain
25	chr2:55363200-55365600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:55363200-55366000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:55363200-55366000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:55363200-55366200	Enhancers	Colon Smooth Muscle	Colon
29	chr2:55363200-55366800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr2:55363200-55367200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:55363200-55367800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:55363400-55365400	Enhancers	Lung	lung
33	chr2:55363400-55365600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:55363400-55365600	Enhancers	Right Atrium	heart
35	chr2:55363400-55365800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:55363400-55366000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:55363400-55366200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:55363400-55366200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:55363400-55366600	Enhancers	Fetal Lung	lung
40	chr2:55363600-55365800	Enhancers	Fetal Muscle Leg	muscle
41	chr2:55363600-55366200	Enhancers	Fetal Stomach	stomach
42	chr2:55363600-55367200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:55363600-55368800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:55363800-55365600	Enhancers	Rectal Smooth Muscle	rectum
45	chr2:55363800-55366000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:55363800-55366000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:55363800-55366800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr2:55363800-55367200	Enhancers	Stomach Mucosa	stomach
49	chr2:55363800-55368600	Weak transcription	Pancreas	Pancrea
50	chr2:55363800-55370400	Enhancers	Duodenum Mucosa	Duodenum

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