Variant report

Variant	rs505458
Chromosome Location	chr11:100852768-100852769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100851290..100854016-chr11:100995188..100997674,2	MCF-7	breast:
2	chr11:100851180..100854144-chr11:100858258..100861196,2	K562	blood:
3	chr11:100851062..100853644-chr11:100861748..100863758,2	MCF-7	breast:
4	chr11:100851058..100853981-chr11:101168719..101170775,2	MCF-7	breast:
5	chr11:100849467..100854913-chr11:100993227..101000778,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170647	Chromatin interaction
ENSG00000082175	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10501968	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs10791431	0.82[EUR][1000 genomes]
rs10791440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224507	0.81[EUR][1000 genomes]
rs11224509	0.82[EUR][1000 genomes]
rs11224526	1.00[CHB][hapmap]
rs11224530	1.00[CHB][hapmap]
rs1145434	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11534487	0.81[EUR][1000 genomes]
rs12417366	1.00[CHB][hapmap]
rs12417367	1.00[CHB][hapmap]
rs12417750	1.00[CHB][hapmap]
rs12418330	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs12418450	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs12418769	1.00[CHB][hapmap]
rs12419150	1.00[CHB][hapmap]
rs12419214	1.00[CHB][hapmap]
rs12419257	0.94[CHB][hapmap]
rs12420453	1.00[CHB][hapmap]
rs12420466	1.00[CHB][hapmap]
rs12420698	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs12421386	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs12422140	1.00[CHB][hapmap]
rs17095808	1.00[CHB][hapmap]
rs17095820	1.00[CHB][hapmap]
rs17095829	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1893683	0.82[EUR][1000 genomes]
rs1940221	0.82[EUR][1000 genomes]
rs1944432	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1944433	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1944434	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2155444	1.00[CHB][hapmap]
rs2155445	1.00[CHB][hapmap]
rs2165664	0.82[EUR][1000 genomes]
rs2186784	1.00[CHB][hapmap]
rs2186785	0.88[CHB][hapmap]
rs2186786	0.94[CHB][hapmap]
rs2277275	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs2407823	0.82[EUR][1000 genomes]
rs2407825	0.82[EUR][1000 genomes]
rs2897779	0.82[EUR][1000 genomes]
rs473765	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs475432	1.00[CHB][hapmap]
rs4754708	0.82[EUR][1000 genomes]
rs4754709	0.82[EUR][1000 genomes]
rs479135	1.00[CHB][hapmap]
rs485269	0.87[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497234	1.00[CHB][hapmap]
rs507858	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs515868	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs516873	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs527433	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs533384	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533571	0.94[AFR][1000 genomes]
rs535747	0.93[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540866	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs543146	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs549510	1.00[CHB][hapmap]
rs552490	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs555825	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs55745131	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56320976	0.82[EUR][1000 genomes]
rs563460	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs568618	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs569336	0.84[CEU][hapmap]
rs575734	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576472	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs583415	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs631172	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634968	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs640326	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs658497	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs659034	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6590829	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs6590831	1.00[CHB][hapmap]
rs661973	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs668513	1.00[CHB][hapmap]
rs688146	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7114062	0.94[CHB][hapmap]
rs7130586	1.00[CHB][hapmap]
rs7933033	1.00[CHB][hapmap];0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
2	chr11:100844000-100860200	Strong transcription	Placenta	Placenta
3	chr11:100844800-100863000	Weak transcription	Brain Anterior Caudate	brain
4	chr11:100846200-100857400	Weak transcription	Fetal Brain Male	brain
5	chr11:100846400-100855200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:100847000-100855200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:100847800-100854400	Weak transcription	Right Ventricle	heart
8	chr11:100848000-100861800	Weak transcription	Fetal Heart	heart
9	chr11:100848200-100856200	Weak transcription	Fetal Intestine Small	intestine
10	chr11:100848200-100856400	Weak transcription	Fetal Stomach	stomach
11	chr11:100848200-100857400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:100848200-100858600	Weak transcription	Gastric	stomach
13	chr11:100848200-100859600	Weak transcription	Stomach Mucosa	stomach
14	chr11:100848200-100861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:100848200-100866000	Weak transcription	Psoas Muscle	Psoas
16	chr11:100848400-100859800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:100848400-100859800	Weak transcription	Fetal Kidney	kidney
18	chr11:100848400-100860800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:100848400-100863200	Weak transcription	Fetal Intestine Large	intestine
20	chr11:100848400-100864600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:100848600-100852800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:100848600-100859200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:100848600-100863400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:100848600-100865200	Weak transcription	Left Ventricle	heart
25	chr11:100848600-100865800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:100848800-100855000	Weak transcription	Primary B cells from cord blood	blood
27	chr11:100848800-100857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:100848800-100858000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:100848800-100860000	Weak transcription	NH-A	brain
30	chr11:100848800-100864800	Weak transcription	HSMM	muscle
31	chr11:100849000-100862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:100849000-100863000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:100849200-100867400	Weak transcription	Fetal Lung	lung
34	chr11:100849600-100856200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:100849800-100856400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:100850000-100859800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:100850000-100861600	Weak transcription	Adipose Nuclei	Adipose
38	chr11:100850600-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:100851000-100853200	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:100851000-100858200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:100851000-100870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:100851600-100852800	Enhancers	Ovary	ovary
43	chr11:100851800-100853200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:100852000-100860400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:100852200-100852800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:100852200-100853200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:100852200-100854400	Strong transcription	HSMMtube	muscle
48	chr11:100852400-100854200	Weak transcription	Liver	Liver
49	chr11:100852400-100857000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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