Variant report

Variant	rs7948491
Chromosome Location	chr11:108547368-108547369
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	chr11:108535825..108537691-chr11:108545574..108549379,3	K562	blood:
2	chr11:108541487..108543363-chr11:108546623..108548937,2	K562	blood:

Variant related genes	Relation type
ENSG00000178105	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1017845	1.00[EUR][1000 genomes]
rs10400217	1.00[EUR][1000 genomes]
rs10400318	1.00[EUR][1000 genomes]
rs11212779	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12808674	0.88[YRI][hapmap]
rs17108271	1.00[EUR][1000 genomes]
rs2640772	1.00[EUR][1000 genomes]
rs2852204	1.00[EUR][1000 genomes]
rs35520914	1.00[AMR][1000 genomes]
rs58222580	1.00[EUR][1000 genomes]
rs6589026	1.00[EUR][1000 genomes]
rs6589027	1.00[EUR][1000 genomes]
rs73554932	1.00[EUR][1000 genomes]
rs7948697	1.00[EUR][1000 genomes]
rs990252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr11:108536600-108578400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108536800-108547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:108536800-108547600	Weak transcription	Colonic Mucosa	Colon
4	chr11:108536800-108548400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:108536800-108549800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:108537800-108547800	Weak transcription	Fetal Brain Male	brain
7	chr11:108537800-108549800	Weak transcription	A549	lung
8	chr11:108537800-108560200	Weak transcription	Small Intestine	intestine
9	chr11:108538000-108547600	Weak transcription	Brain Anterior Caudate	brain
10	chr11:108538200-108547600	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:108538200-108574800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:108538400-108547800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:108538600-108547800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:108538600-108548800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:108538600-108550600	Weak transcription	Stomach Mucosa	stomach
16	chr11:108538800-108547600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:108538800-108547800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:108540400-108547800	Weak transcription	Hela-S3	cervix
19	chr11:108540400-108560600	Weak transcription	Pancreas	Pancrea
20	chr11:108541400-108548000	Weak transcription	Psoas Muscle	Psoas
21	chr11:108541400-108562800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:108541400-108578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:108541800-108548000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:108543200-108547800	Weak transcription	NHLF	lung
25	chr11:108543600-108547600	Weak transcription	Brain Angular Gyrus	brain
26	chr11:108543600-108575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:108543800-108549600	Strong transcription	GM12878-XiMat	blood
28	chr11:108544000-108551200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:108544200-108569000	Weak transcription	Fetal Heart	heart
30	chr11:108544400-108551200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr11:108544600-108548200	Strong transcription	Fetal Intestine Small	intestine
32	chr11:108544600-108548200	Strong transcription	Fetal Stomach	stomach
33	chr11:108544600-108550800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:108544600-108552400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:108544600-108552800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:108544600-108553400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:108544800-108551800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:108545200-108549600	Strong transcription	Osteobl	bone
39	chr11:108545200-108549800	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:108545200-108550000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:108545200-108551200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr11:108545200-108551400	Strong transcription	Fetal Intestine Large	intestine
43	chr11:108545200-108551800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:108545400-108548200	Strong transcription	Spleen	Spleen
45	chr11:108545400-108548800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr11:108545400-108550800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:108545400-108551000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:108545400-108551000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:108545400-108551200	Strong transcription	Primary T cells from cord blood	blood
50	chr11:108545400-108551200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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