Variant report

Variant	rs631172
Chromosome Location	chr11:100856293-100856294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10791431	0.80[EUR][1000 genomes]
rs10791440	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145434	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1893683	0.80[EUR][1000 genomes]
rs1940221	0.81[EUR][1000 genomes]
rs2165664	0.80[EUR][1000 genomes]
rs4754708	0.81[EUR][1000 genomes]
rs4754709	0.81[EUR][1000 genomes]
rs485269	0.82[CEU][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505458	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507858	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs516873	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs527433	0.84[AMR][1000 genomes]
rs533384	0.90[CEU][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535747	0.92[CEU][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540866	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs543146	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs552490	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55745131	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs568618	0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs569336	0.90[CEU][hapmap]
rs575734	0.90[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629813	0.88[AFR][1000 genomes]
rs634968	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs640326	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs658497	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs659034	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688146	0.90[CEU][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]

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:47 , 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	chr11:100848000-100861800	Weak transcription	Fetal Heart	heart
6	chr11:100848200-100856400	Weak transcription	Fetal Stomach	stomach
7	chr11:100848200-100857400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:100848200-100858600	Weak transcription	Gastric	stomach
9	chr11:100848200-100859600	Weak transcription	Stomach Mucosa	stomach
10	chr11:100848200-100861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:100848200-100866000	Weak transcription	Psoas Muscle	Psoas
12	chr11:100848400-100859800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:100848400-100859800	Weak transcription	Fetal Kidney	kidney
14	chr11:100848400-100860800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:100848400-100863200	Weak transcription	Fetal Intestine Large	intestine
16	chr11:100848400-100864600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:100848600-100859200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:100848600-100863400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:100848600-100865200	Weak transcription	Left Ventricle	heart
20	chr11:100848600-100865800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:100848800-100857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:100848800-100858000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:100848800-100860000	Weak transcription	NH-A	brain
24	chr11:100848800-100864800	Weak transcription	HSMM	muscle
25	chr11:100849000-100862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:100849000-100863000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:100849200-100867400	Weak transcription	Fetal Lung	lung
28	chr11:100849800-100856400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:100850000-100859800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:100850000-100861600	Weak transcription	Adipose Nuclei	Adipose
31	chr11:100850600-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:100851000-100858200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:100851000-100870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:100852000-100860400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:100852400-100857000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:100852800-100856400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:100853200-100856400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:100853200-100856400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:100854600-100860600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:100854800-100857200	Weak transcription	Liver	Liver
41	chr11:100855200-100856400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:100855600-100858800	Weak transcription	Primary B cells from cord blood	blood
43	chr11:100855800-100859600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:100856200-100857200	Strong transcription	Fetal Intestine Small	intestine
45	chr11:100856200-100857400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:100856200-100858400	Strong transcription	HSMMtube	muscle
47	chr11:100856200-100858600	Strong transcription	Fetal Muscle Leg	muscle

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