Variant report

Variant	rs3740958
Chromosome Location	chr11:36472800-36472801
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	POLR2A	chr11:36472278-36473033	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36471715..36474622-chr11:36475747..36477445,2	MCF-7	breast:
2	chr11:36472788..36474841-chr11:36478990..36481077,2	MCF-7	breast:

Variant related genes	Relation type
PRR5L	TF binding region
ENSG00000135362	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10742374	0.87[JPT][hapmap]
rs7117218	0.83[JPT][hapmap]
rs7930554	0.84[CEU][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1046452	chr11:36460958-36503079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv518499	chr11:36466814-36479789	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3740958	C11orf74	cis	parietal	SCAN
rs3740958	CCDC73	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:36449600-36474000	Weak transcription	Right Ventricle	heart
4	chr11:36452800-36473800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:36454800-36473600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:36455800-36473800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:36463000-36474000	Weak transcription	Fetal Kidney	kidney
8	chr11:36464400-36478800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:36467800-36478800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:36468200-36473800	Weak transcription	Esophagus	oesophagus
11	chr11:36469200-36474000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:36469200-36475600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:36469200-36475600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:36469200-36480200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:36469400-36475800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:36469800-36475000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:36470000-36473600	Strong transcription	NHEK	skin
18	chr11:36470000-36475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:36470200-36476600	Weak transcription	Psoas Muscle	Psoas
20	chr11:36470400-36474800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:36470400-36477800	Genic enhancers	Fetal Intestine Small	intestine
22	chr11:36470600-36473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:36470600-36482800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:36470800-36474800	Weak transcription	HMEC	breast
25	chr11:36470800-36478000	Genic enhancers	Fetal Intestine Large	intestine
26	chr11:36471000-36474000	Enhancers	Brain Anterior Caudate	brain
27	chr11:36471000-36474600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:36471000-36475400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:36471000-36476400	Enhancers	Fetal Thymus	thymus
30	chr11:36471000-36476400	Genic enhancers	Rectal Mucosa Donor 29	rectum
31	chr11:36471200-36473000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:36471200-36475400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:36471200-36475800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:36471200-36478000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:36471400-36473200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:36471400-36474400	Genic enhancers	Colonic Mucosa	Colon
37	chr11:36471400-36475600	Enhancers	Brain Angular Gyrus	brain
38	chr11:36471400-36475800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:36471600-36475800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:36471600-36478400	Genic enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:36471800-36474000	Weak transcription	Aorta	Aorta
42	chr11:36471800-36475400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:36471800-36506800	Weak transcription	Gastric	stomach
44	chr11:36471800-36506800	Weak transcription	Pancreas	Pancrea
45	chr11:36472000-36472800	Enhancers	Primary B cells from peripheral blood	blood
46	chr11:36472000-36472800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:36472000-36472800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:36472000-36473400	Bivalent Enhancer	Dnd41	blood
49	chr11:36472000-36473600	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr11:36472000-36473600	Weak transcription	Placenta	Placenta

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