Variant report

Variant	rs3758660
Chromosome Location	chr11:3803071-3803072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3802798..3805152-chr11:3817253..3819488,4	K562	blood:

Variant related genes	Relation type
ENSG00000148985	Chromatin interaction
ENSG00000110713	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10834761	0.83[JPT][hapmap]
rs11029772	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12222813	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs169346	0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs188044	0.84[JPT][hapmap]
rs2672219	0.85[JPT][hapmap]
rs2741868	0.82[JPT][hapmap]
rs276885	0.84[JPT][hapmap]
rs276886	0.94[ASN][1000 genomes]
rs276887	0.94[ASN][1000 genomes]
rs276890	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs276900	0.80[JPT][hapmap]
rs276901	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2957865	0.82[JPT][hapmap]
rs4575303	0.83[JPT][hapmap]
rs602879	0.89[JPT][hapmap];0.83[AMR][1000 genomes]
rs612785	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs616762	0.89[JPT][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs623056	0.81[JPT][hapmap]
rs633271	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs648753	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs675403	0.84[ASN][1000 genomes]
rs678302	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7119248	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking 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	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3685600-3805600	Strong transcription	Fetal Thymus	thymus
2	chr11:3687000-3805600	Strong transcription	Dnd41	blood
3	chr11:3732200-3803400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:3732400-3804400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:3732400-3808000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:3732600-3803600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:3733600-3803600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:3739400-3817600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:3780000-3803800	Strong transcription	Hela-S3	cervix
10	chr11:3780200-3803400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:3780200-3803800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:3780200-3808000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:3780600-3817000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:3786800-3816000	Weak transcription	Stomach Mucosa	stomach
15	chr11:3791200-3813200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:3793800-3816800	Weak transcription	Fetal Heart	heart
17	chr11:3793800-3817000	Weak transcription	Fetal Brain Male	brain
18	chr11:3796000-3803400	Strong transcription	HUVEC	blood vessel
19	chr11:3798400-3804600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:3800000-3808400	Weak transcription	Psoas Muscle	Psoas
21	chr11:3800400-3804200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:3800400-3806400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:3800400-3806600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:3800400-3806600	Weak transcription	Gastric	stomach
25	chr11:3800400-3806600	Weak transcription	Spleen	Spleen
26	chr11:3800400-3807200	Weak transcription	Brain Angular Gyrus	brain
27	chr11:3800400-3807200	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:3800400-3807400	Weak transcription	NH-A	brain
29	chr11:3800400-3808400	Weak transcription	Pancreas	Pancrea
30	chr11:3800400-3812800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:3800400-3813200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:3800400-3813400	Weak transcription	Fetal Kidney	kidney
33	chr11:3800400-3816400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:3800400-3816400	Weak transcription	Small Intestine	intestine
35	chr11:3800400-3817000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:3800400-3817600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:3800600-3804200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:3800600-3805400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:3800600-3807800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:3800600-3807800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:3800600-3813400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:3800600-3816400	Weak transcription	Colonic Mucosa	Colon
43	chr11:3800600-3817000	Weak transcription	HSMMtube	muscle
44	chr11:3800600-3817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:3800800-3808400	Weak transcription	Right Ventricle	heart
46	chr11:3801000-3803400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:3801000-3805200	Weak transcription	Primary B cells from cord blood	blood
48	chr11:3801000-3807800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:3801200-3808000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:3801400-3803200	Weak transcription	NHEK	skin

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