Variant report

Variant	rs2303338
Chromosome Location	chr2:86408768-86408769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86407092..86409697-chr2:86421873..86423517,2	K562	blood:
2	chr2:86408516..86411013-chr2:86420822..86423128,4	MCF-7	breast:
3	chr2:86329948..86332562-chr2:86408427..86410374,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132305	Chromatin interaction
ENSG00000273080	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10173155	1.00[CHB][hapmap]
rs1050301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11127016	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11127019	1.00[YRI][hapmap]
rs11127024	1.00[YRI][hapmap]
rs1131071	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11676515	1.00[YRI][hapmap]
rs11685551	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11689971	1.00[YRI][hapmap]
rs11900161	0.86[CHB][hapmap]
rs13005014	1.00[YRI][hapmap]
rs13024436	1.00[YRI][hapmap]
rs1559514	1.00[YRI][hapmap]
rs17438451	1.00[YRI][hapmap]
rs17584697	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17618119	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs17738058	1.00[YRI][hapmap]
rs1863056	1.00[YRI][hapmap]
rs1863057	1.00[YRI][hapmap]
rs1863060	1.00[YRI][hapmap]
rs1863061	1.00[YRI][hapmap]
rs2042502	1.00[YRI][hapmap]
rs2059352	0.83[EUR][1000 genomes]
rs2081322	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113615	1.00[YRI][hapmap]
rs2194486	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2241432	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs2288122	0.82[CHB][hapmap]
rs2367200	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs311576	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs311578	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs311579	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs311585	0.81[ASN][1000 genomes]
rs311588	0.81[ASN][1000 genomes]
rs3731818	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764949	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3764950	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821017	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4344936	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4610056	1.00[YRI][hapmap]
rs4832233	1.00[CHB][hapmap]
rs4832240	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4832263	1.00[YRI][hapmap]
rs4832272	1.00[YRI][hapmap]
rs62147717	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6725046	0.86[CHB][hapmap]
rs6731358	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs717144	1.00[CHB][hapmap]
rs72847885	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7567380	0.89[ASN][1000 genomes]
rs7569654	1.00[YRI][hapmap]
rs7575430	0.86[AFR][1000 genomes]
rs965636	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv458574	chr2:86385728-86507688	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv582372	chr2:86385728-86507688	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2303338	IMMT	cis	Whole Blood	GTEx
rs2303338	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs2303338	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86335000-86409000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86335400-86408800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:86381600-86409000	Strong transcription	Fetal Thymus	thymus
4	chr2:86381800-86409000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:86386200-86413000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:86387600-86410000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:86390400-86421200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:86390600-86411200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:86393400-86413400	Weak transcription	Gastric	stomach
10	chr2:86393800-86413600	Weak transcription	Esophagus	oesophagus
11	chr2:86394800-86409000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:86396400-86412600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:86396600-86413000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:86398600-86417200	Weak transcription	Fetal Brain Male	brain
15	chr2:86400000-86411400	Weak transcription	Aorta	Aorta
16	chr2:86400200-86412800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:86400400-86412800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:86403600-86413000	Weak transcription	Right Ventricle	heart
19	chr2:86403800-86411800	Weak transcription	Stomach Mucosa	stomach
20	chr2:86404000-86409000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:86404000-86421200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:86404400-86409000	Strong transcription	Fetal Intestine Small	intestine
23	chr2:86404400-86411800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:86404400-86412600	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:86405000-86411600	Weak transcription	NHEK	skin
26	chr2:86405200-86409600	Weak transcription	Psoas Muscle	Psoas
27	chr2:86405200-86412200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:86405800-86409600	Weak transcription	Pancreas	Pancrea
29	chr2:86406000-86408800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:86406000-86412000	Weak transcription	Brain Substantia Nigra	brain
31	chr2:86406000-86421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:86406200-86410000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:86406400-86408800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:86407000-86411000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:86407000-86411600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:86407000-86412000	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:86407000-86412600	Weak transcription	Fetal Lung	lung
38	chr2:86407000-86412600	Weak transcription	HUVEC	blood vessel
39	chr2:86407000-86413000	Weak transcription	Fetal Kidney	kidney
40	chr2:86407000-86413400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:86407000-86415400	Weak transcription	Placenta	Placenta
42	chr2:86407000-86421200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:86407200-86408800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:86407200-86410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:86407200-86410400	Weak transcription	Primary T cells from cord blood	blood
46	chr2:86407200-86411200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:86407200-86411400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:86407200-86411800	Weak transcription	Brain Angular Gyrus	brain
49	chr2:86407200-86411800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:86407200-86411800	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links