Variant report

Variant	rs4910038
Chromosome Location	chr11:9284688-9284689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9283945..9285657-chr11:9332278..9334746,2	K562	blood:
2	chr11:9283842..9285699-chr11:9308207..9310804,2	K562	blood:
3	chr11:9283842..9286911-chr11:9307794..9310804,4	K562	blood:
4	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
5	chr11:9280208..9281989-chr11:9282127..9285333,4	K562	blood:
6	chr11:9282323..9285944-chr11:9290054..9293255,4	K562	blood:
7	chr11:9283600..9286553-chr11:9290163..9293255,5	K562	blood:
8	chr11:9284656..9288251-chr11:9406150..9408599,6	K562	blood:
9	chr11:9260075..9262921-chr11:9283995..9286236,2	K562	blood:
10	chr11:9276956..9280134-chr11:9283960..9286247,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205339	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000254884	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11042242	0.85[CEU][hapmap]
rs11042260	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042282	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11042294	0.87[AMR][1000 genomes]
rs1136330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11600093	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11600994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11601190	0.90[EUR][1000 genomes]
rs11601229	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11601340	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11601383	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11601789	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11603759	0.86[AMR][1000 genomes]
rs11604054	0.89[EUR][1000 genomes]
rs11604121	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11604198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11604607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11605358	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11605674	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11606260	0.82[EUR][1000 genomes]
rs11606740	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11606969	0.90[EUR][1000 genomes]
rs11607790	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11608223	1.00[AFR][1000 genomes]
rs16906708	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16914802	1.00[CEU][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap]
rs35347227	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs36005639	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4351820	0.89[EUR][1000 genomes]
rs4622264	0.86[EUR][1000 genomes]
rs4910036	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910039	1.00[AMR][1000 genomes]
rs4910441	0.88[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs4910449	1.00[AFR][1000 genomes]
rs4910450	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4910456	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs55640358	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs55723890	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55741313	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55793943	0.93[AMR][1000 genomes]
rs55980718	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55989000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55994936	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56002897	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56065481	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56081129	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs56292930	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7115641	1.00[CEU][hapmap]
rs7115750	0.88[CEU][hapmap]
rs7394938	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7395168	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7395453	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7395754	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7396336	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7396512	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9215	0.89[EUR][1000 genomes]
rs956516	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4910038	RNF141	cis	parietal	SCAN
rs4910038	TMEM41B	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:9264200-9285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:9267800-9285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:9270200-9284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:9272000-9285400	Weak transcription	HSMMtube	muscle
9	chr11:9272600-9285600	Weak transcription	Small Intestine	intestine
10	chr11:9273200-9285400	Weak transcription	K562	blood
11	chr11:9274600-9285400	Weak transcription	Fetal Intestine Large	intestine
12	chr11:9275200-9285400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:9277600-9285400	Weak transcription	Fetal Intestine Small	intestine
14	chr11:9278400-9285400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:9278600-9285400	Weak transcription	NHEK	skin
16	chr11:9279200-9285400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:9280400-9284800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:9280400-9285400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:9281200-9284800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:9281200-9284800	Enhancers	Brain Hippocampus Middle	brain
21	chr11:9281200-9285000	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:9281200-9285200	Enhancers	Fetal Heart	heart
23	chr11:9281200-9285400	Enhancers	Primary B cells from cord blood	blood
24	chr11:9281200-9285400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr11:9281200-9285400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr11:9281400-9284800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:9281400-9285200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr11:9281400-9285600	Weak transcription	Pancreas	Pancrea
29	chr11:9281600-9284800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:9281600-9285000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr11:9281600-9285200	Enhancers	A549	lung
32	chr11:9281800-9285400	Enhancers	Primary hematopoietic stem cells	blood
33	chr11:9282000-9285200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:9282000-9285400	Enhancers	HUVEC	blood vessel
35	chr11:9282000-9285600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:9282200-9285200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:9282200-9285400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:9282200-9285600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:9282400-9285400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:9282400-9285400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:9282600-9284800	Weak transcription	Ovary	ovary
42	chr11:9282600-9285400	Weak transcription	Liver	Liver
43	chr11:9282800-9284800	Enhancers	Primary T cells from cord blood	blood
44	chr11:9282800-9284800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:9282800-9284800	Weak transcription	Right Ventricle	heart
46	chr11:9282800-9285000	Weak transcription	Psoas Muscle	Psoas
47	chr11:9282800-9285400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:9282800-9285400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr11:9282800-9285400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:9282800-9285400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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