Variant report

Variant	rs2735690
Chromosome Location	chr11:4137339-4137340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr11:4137170-4137466	K562	blood:	n/a	n/a
2	PAX5	chr11:4137191-4137381	GM12878	blood:	n/a	n/a
3	HEY1	chr11:4137124-4137498	K562	blood:	n/a	n/a
4	MAFK	chr11:4137298-4137645	IMR90	lung:	n/a	chr11:4137471-4137486
5	MAFF	chr11:4137306-4137648	HepG2	liver:	n/a	chr11:4137469-4137487
6	MAFK	chr11:4137304-4137591	K562	blood:	n/a	chr11:4137471-4137486
7	MAFK	chr11:4137295-4137649	HepG2	liver:	n/a	chr11:4137471-4137486
8	POLR2A	chr11:4137187-4137507	Hela-S3	cervix:	n/a	n/a
9	MAFK	chr11:4137292-4137623	H1-hESC	embryonic stem cell:	n/a	chr11:4137471-4137486
10	POLR2A	chr11:4137271-4137568	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:4137199-4137582	Hela-S3	cervix:	n/a	n/a
12	MAFK	chr11:4137314-4137628	HepG2	liver:	n/a	chr11:4137471-4137486
13	POLR2A	chr11:4137165-4137565	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:4137264-4137509	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4131355..4133542-chr11:4137072..4140145,3	K562	blood:
2	chr11:4135275..4137434-chr11:4139419..4142096,2	K562	blood:

Variant related genes	Relation type
RRM1	TF binding region
ENSG00000167325	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10742249	0.83[ASN][1000 genomes]
rs10835678	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1662163	0.92[EUR][1000 genomes]
rs1662177	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1735053	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1735055	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs232045	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412341	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6578445	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115615	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9667777	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][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	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4117000-4141000	Weak transcription	Ovary	ovary
2	chr11:4117200-4142200	Weak transcription	Colonic Mucosa	Colon
3	chr11:4117400-4141800	Weak transcription	Small Intestine	intestine
4	chr11:4117600-4137400	Weak transcription	Right Ventricle	heart
5	chr11:4117600-4144600	Weak transcription	HSMMtube	muscle
6	chr11:4117600-4145200	Weak transcription	Gastric	stomach
7	chr11:4117600-4153000	Weak transcription	Stomach Mucosa	stomach
8	chr11:4117800-4147800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:4117800-4160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:4118000-4159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:4118400-4146400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:4118400-4156200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:4118800-4141000	Weak transcription	Brain Germinal Matrix	brain
14	chr11:4119000-4137800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:4119400-4157600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:4121000-4159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:4121600-4142800	Weak transcription	Fetal Brain Male	brain
18	chr11:4122000-4139800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:4122400-4158000	Strong transcription	Dnd41	blood
20	chr11:4122800-4141800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:4122800-4158000	Strong transcription	Fetal Thymus	thymus
22	chr11:4123000-4138200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:4123000-4152000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:4123000-4157600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:4123000-4157600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:4123000-4157800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:4123200-4158000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:4124000-4157600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:4124000-4157800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:4124400-4138200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:4124600-4138000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:4124800-4138200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:4125200-4138000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:4125400-4137400	Weak transcription	Pancreas	Pancrea
35	chr11:4126000-4142000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:4126200-4137800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:4126600-4166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:4127000-4151000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:4127400-4138600	Weak transcription	NHLF	lung
40	chr11:4127400-4142200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:4127400-4148400	Weak transcription	Psoas Muscle	Psoas
42	chr11:4127600-4141600	Weak transcription	Aorta	Aorta
43	chr11:4127600-4144400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:4127600-4144400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:4127600-4158000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:4129000-4140000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:4130200-4144600	Weak transcription	Fetal Heart	heart
48	chr11:4130600-4138200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:4131000-4138000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr11:4131000-4138000	Strong transcription	Fetal Intestine Large	intestine

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