Variant report

Variant	rs4944036
Chromosome Location	chr11:73781714-73781715
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73691754..73696567-chr11:73778152..73784121,11	MCF-7	breast:
2	chr11:73679005..73682645-chr11:73778281..73782136,5	MCF-7	breast:
3	chr11:73778180..73781840-chr11:73797440..73801034,4	MCF-7	breast:
4	chr11:73780866..73784002-chr11:73798180..73802078,6	MCF-7	breast:
5	chr11:73679561..73684546-chr11:73778723..73783416,5	MCF-7	breast:
6	chr11:73747729..73749562-chr11:73778913..73781744,2	MCF-7	breast:
7	chr11:73780255..73782526-chr11:73881717..73883400,2	MCF-7	breast:
8	chr11:73691101..73695528-chr11:73777647..73786599,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168014	Chromatin interaction
ENSG00000255847	Chromatin interaction
ENSG00000214517	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10898954	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1614299	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1615115	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1685326	0.81[ASN][1000 genomes]
rs1685355	0.86[JPT][hapmap]
rs1726735	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1726744	0.89[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1726745	0.87[JPT][hapmap]
rs1726746	0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1726752	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1726764	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs1783537	0.91[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs1790381	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1790398	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1790399	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1790404	0.84[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007567	0.85[ASN][1000 genomes]
rs2075577	0.87[JPT][hapmap]
rs4453265	0.89[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs474835	0.85[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap]
rs4944038	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944878	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs500608	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap]
rs575096	0.81[EUR][1000 genomes]
rs588097	0.87[JPT][hapmap]
rs590336	0.87[JPT][hapmap]
rs635441	0.87[JPT][hapmap]
rs647126	0.87[JPT][hapmap]
rs6592545	0.89[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7121868	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7483884	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7926165	0.87[JPT][hapmap]
rs826033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs826039	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826042	0.90[YRI][hapmap]
rs826056	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs826061	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs826062	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826066	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826087	0.89[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS 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 target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4944036	FGF19	cis	cerebellum	SCAN
rs4944036	P4HA3	cis	Thyroid	GTEx
rs4944036	C2CD3	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
2	chr11:73750800-73783600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:73750800-73800400	Weak transcription	HMEC	breast
4	chr11:73753200-73782000	Weak transcription	Fetal Brain Male	brain
5	chr11:73753200-73783400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:73753200-73783400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:73753200-73796400	Weak transcription	Small Intestine	intestine
8	chr11:73753200-73804600	Weak transcription	Colonic Mucosa	Colon
9	chr11:73753400-73781800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:73753400-73784800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:73758400-73782800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:73759000-73783400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:73759200-73783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:73759400-73783600	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:73760000-73802600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:73760600-73783200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:73760600-73785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:73760800-73782000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:73765000-73781800	Weak transcription	Brain Substantia Nigra	brain
20	chr11:73765400-73784000	Weak transcription	Fetal Intestine Small	intestine
21	chr11:73767600-73783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:73768000-73783200	Weak transcription	GM12878-XiMat	blood
23	chr11:73768200-73781800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:73768800-73798200	Weak transcription	NHEK	skin
25	chr11:73769000-73782000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:73769000-73783400	Weak transcription	Ovary	ovary
27	chr11:73769000-73788600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:73771000-73783800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:73771000-73784800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:73771200-73783400	Weak transcription	Lung	lung
31	chr11:73771200-73783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:73771200-73784000	Weak transcription	Fetal Stomach	stomach
33	chr11:73771200-73785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:73771200-73785200	Weak transcription	Esophagus	oesophagus
35	chr11:73771200-73789000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:73771600-73781800	Weak transcription	Thymus	Thymus
37	chr11:73777000-73788400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:73777600-73788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:73777600-73818600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:73778000-73790600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:73778200-73783400	Weak transcription	HUVEC	blood vessel
42	chr11:73778200-73786000	Strong transcription	Left Ventricle	heart
43	chr11:73778200-73789800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:73778200-73791000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:73778400-73782200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:73778400-73786000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:73778400-73786000	Strong transcription	HSMMtube	muscle
48	chr11:73778400-73790000	Strong transcription	Fetal Thymus	thymus
49	chr11:73778800-73781800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:73778800-73785600	Strong transcription	Primary hematopoietic stem cells	blood

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