Variant report

Variant	rs7103627
Chromosome Location	chr11:66648083-66648084
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66620817..66623976-chr11:66646170..66651314,5	MCF-7	breast:
2	chr11:66382706..66385676-chr11:66647660..66650691,4	MCF-7	breast:
3	chr11:66632881..66640228-chr11:66642679..66650860,16	MCF-7	breast:
4	chr11:66633380..66638665-chr11:66646589..66650033,7	MCF-7	breast:
5	chr11:66642783..66644692-chr11:66646409..66648155,2	MCF-7	breast:
6	chr11:66645757..66648889-chr11:66656797..66659524,3	MCF-7	breast:
7	chr11:66646725..66648857-chr11:66724586..66727016,2	MCF-7	breast:
8	chr11:66647175..66649166-chr11:66649230..66650803,2	MCF-7	breast:
9	chr11:66647154..66650016-chr11:66659832..66661470,2	MCF-7	breast:
10	chr11:66608285..66612923-chr11:66645683..66650712,11	MCF-7	breast:
11	chr11:66607636..66611821-chr11:66647654..66651016,8	MCF-7	breast:
12	chr11:66622201..66627158-chr11:66645726..66651981,9	MCF-7	breast:
13	chr11:66647891..66649583-chr11:66760938..66762992,2	MCF-7	breast:
14	chr11:66646522..66648593-chr11:66737895..66740252,2	K562	blood:
15	chr11:66639577..66641778-chr11:66647865..66649467,2	K562	blood:
16	chr11:66647060..66650897-chr11:66788816..66791425,4	MCF-7	breast:
17	chr11:66647327..66648983-chr11:66656023..66658425,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173621	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173599	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000248643	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10160758	0.81[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10750790	0.86[CEU][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs10791889	0.86[CEU][hapmap];0.94[GIH][hapmap];0.85[TSI][hapmap]
rs10791892	0.81[EUR][1000 genomes]
rs10896135	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs10896139	0.90[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11227610	0.87[CEU][hapmap];0.93[EUR][1000 genomes]
rs11600959	0.85[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes]
rs2077432	0.85[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2167457	0.90[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2187041	0.81[CEU][hapmap];0.83[GIH][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs2380760	0.87[EUR][1000 genomes]
rs3741194	1.00[GIH][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs3741364	0.83[GIH][hapmap]
rs4008953	0.87[EUR][1000 genomes]
rs4576826	0.81[EUR][1000 genomes]
rs4930390	0.86[CEU][hapmap];0.94[GIH][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs6591222	0.81[CEU][hapmap];0.94[GIH][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs7119426	0.90[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7120256	0.90[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs714766	0.81[EUR][1000 genomes]
rs7570	0.85[CEU][hapmap]
rs7930203	0.86[CEU][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs7948839	0.86[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs9971487	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

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	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7103627	EHBP1L1	cis	cerebellum	SCAN
rs7103627	B3GNT1	cis	parietal	SCAN
rs7103627	ZNHIT2	cis	cerebellum	SCAN
rs7103627	CST6	cis	parietal	SCAN
rs7103627	LRFN4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66625000-66648800	Weak transcription	Right Atrium	heart
2	chr11:66625400-66650600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:66625800-66650800	Weak transcription	Osteobl	bone
4	chr11:66627800-66650000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:66636800-66650800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:66638000-66650000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:66638600-66650200	Weak transcription	Fetal Intestine Large	intestine
8	chr11:66639000-66657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:66639200-66649600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:66639200-66649800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:66639200-66657400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:66639400-66648200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:66639400-66650000	Weak transcription	Colonic Mucosa	Colon
14	chr11:66639400-66650400	Weak transcription	Aorta	Aorta
15	chr11:66639400-66659800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:66639600-66650200	Weak transcription	Fetal Intestine Small	intestine
17	chr11:66643200-66651400	Enhancers	Fetal Muscle Leg	muscle
18	chr11:66643200-66653000	Enhancers	Liver	Liver
19	chr11:66643800-66648600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:66643800-66649800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:66644200-66648800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:66644600-66650800	Weak transcription	HepG2	liver
23	chr11:66645200-66648600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:66645200-66652000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:66645400-66648400	Enhancers	Fetal Stomach	stomach
26	chr11:66645400-66648600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:66645400-66651200	Enhancers	Gastric	stomach
28	chr11:66645400-66651200	Enhancers	HMEC	breast
29	chr11:66645600-66648600	Enhancers	Placenta	Placenta
30	chr11:66645600-66650000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:66645600-66650800	Enhancers	Fetal Thymus	thymus
32	chr11:66645600-66652400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:66645800-66651400	Enhancers	HSMMtube	muscle
34	chr11:66646000-66649600	Enhancers	Brain Hippocampus Middle	brain
35	chr11:66646000-66649600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:66646000-66660800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:66646200-66648600	Enhancers	Spleen	Spleen
38	chr11:66646200-66649600	Enhancers	Brain Substantia Nigra	brain
39	chr11:66646200-66649800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:66646200-66650200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:66646200-66651400	Enhancers	Fetal Brain Male	brain
42	chr11:66646400-66648400	Enhancers	A549	lung
43	chr11:66646400-66649600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:66646400-66650000	Enhancers	Stomach Mucosa	stomach
45	chr11:66646400-66650200	Enhancers	Brain Cingulate Gyrus	brain
46	chr11:66646400-66650200	Genic enhancers	NHEK	skin
47	chr11:66646600-66649200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:66646600-66650000	Enhancers	Brain Germinal Matrix	brain
49	chr11:66646600-66650800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:66646600-66651400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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