Variant report

Variant	rs10750868
Chromosome Location	chr11:57567405-57567406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:57567395-57567441	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57508686..57513679-chr11:57564628..57569734,7	K562	blood:
2	chr11:57555253..57557894-chr11:57565432..57567473,2	MCF-7	breast:
3	chr11:57510465..57513227-chr11:57564022..57568202,4	K562	blood:
4	chr11:57527835..57531502-chr11:57565390..57568379,5	MCF-7	breast:
5	chr11:57545030..57547537-chr11:57565376..57568397,5	MCF-7	breast:
6	chr11:57560773..57562885-chr11:57566656..57568197,2	K562	blood:
7	chr11:57481010..57482984-chr11:57566572..57568225,2	K562	blood:
8	chr11:57517600..57521846-chr11:57565397..57568354,3	K562	blood:
9	chr11:57561787..57564365-chr11:57565479..57568145,2	MCF-7	breast:
10	chr11:57478662..57480739-chr11:57566595..57568293,2	MCF-7	breast:
11	chr11:57527376..57533264-chr11:57564914..57570096,15	MCF-7	breast:
12	chr11:57546790..57549756-chr11:57565706..57567444,2	MCF-7	breast:
13	chr11:57566631..57568221-chr11:57574767..57576938,2	K562	blood:
14	chr11:57478395..57480567-chr11:57567397..57569805,2	K562	blood:

No data

Variant related genes	Relation type
CTNND1	TF binding region
ENSG00000254462	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000233436	Chromatin interaction
ENSG00000254732	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10444364	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10736687	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10896643	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12284427	1.00[AMR][1000 genomes]
rs1313360	1.00[ASN][1000 genomes]
rs1553827	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1798174	1.00[ASN][1000 genomes]
rs1939322	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2441951	1.00[ASN][1000 genomes]
rs2441957	1.00[ASN][1000 genomes]
rs2860261	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34430954	1.00[ASN][1000 genomes]
rs474073	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs474464	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs505995	1.00[ASN][1000 genomes]
rs523739	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs529838	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs542777	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs552122	1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs554140	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs557051	1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55786036	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55838210	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56879142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57201273	1.00[ASN][1000 genomes]
rs57260887	1.00[ASN][1000 genomes]
rs57759830	1.00[ASN][1000 genomes]
rs58176671	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs585190	1.00[ASN][1000 genomes]
rs58851976	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59046396	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60076210	1.00[ASN][1000 genomes]
rs60282001	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60897155	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61444907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61638601	1.00[ASN][1000 genomes]
rs61743110	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs627861	1.00[ASN][1000 genomes]
rs635663	1.00[CHB][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs637116	0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs648412	1.00[CHB][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103407	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103768	1.00[ASN][1000 genomes]
rs7105331	1.00[ASN][1000 genomes]
rs7110490	1.00[ASN][1000 genomes]
rs7112557	1.00[ASN][1000 genomes]
rs7118249	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7118308	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7122105	0.87[AMR][1000 genomes]
rs7131175	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73472468	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474417	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474449	1.00[ASN][1000 genomes]
rs73474453	1.00[ASN][1000 genomes]
rs73474454	1.00[ASN][1000 genomes]
rs73474455	1.00[ASN][1000 genomes]
rs73474476	1.00[ASN][1000 genomes]
rs73482748	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482786	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482796	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482801	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7928666	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7938752	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs947940	1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57556000-57567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:57556400-57587800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:57559400-57571000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:57561600-57568000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:57561600-57568000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:57564400-57567800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr11:57564400-57568000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:57564400-57569400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:57564400-57575600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:57564600-57567800	Weak transcription	Brain Substantia Nigra	brain
11	chr11:57564600-57567800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:57564600-57567800	Weak transcription	Dnd41	blood
13	chr11:57564600-57568000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:57564600-57568200	Weak transcription	Fetal Brain Male	brain
15	chr11:57564600-57569000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:57564600-57569200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:57564600-57569200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:57564600-57569200	Weak transcription	Esophagus	oesophagus
19	chr11:57564600-57569200	Weak transcription	Thymus	Thymus
20	chr11:57564600-57571000	Weak transcription	Aorta	Aorta
21	chr11:57564800-57569000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:57564800-57569200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:57565000-57568000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:57565400-57568200	Enhancers	Small Intestine	intestine
25	chr11:57565400-57568800	Genic enhancers	Fetal Intestine Large	intestine
26	chr11:57565400-57569400	Enhancers	Stomach Mucosa	stomach
27	chr11:57565400-57570200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:57565800-57568800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:57566000-57568000	Enhancers	Brain Anterior Caudate	brain
30	chr11:57566000-57568000	Enhancers	Brain Hippocampus Middle	brain
31	chr11:57566000-57568200	Genic enhancers	Fetal Muscle Leg	muscle
32	chr11:57566000-57568200	Enhancers	Psoas Muscle	Psoas
33	chr11:57566000-57568600	Enhancers	Primary T cells from cord blood	blood
34	chr11:57566000-57568800	Enhancers	Primary B cells from peripheral blood	blood
35	chr11:57566000-57568800	Genic enhancers	NH-A	brain
36	chr11:57566000-57569600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:57566200-57568200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:57566200-57568400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:57566200-57568600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:57566200-57568800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr11:57566200-57569000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:57566200-57569000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:57566200-57569200	Enhancers	Primary B cells from cord blood	blood
44	chr11:57566200-57569200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:57566400-57567600	Enhancers	Fetal Intestine Small	intestine
46	chr11:57566400-57567800	Weak transcription	Fetal Thymus	thymus
47	chr11:57566400-57568200	Enhancers	Pancreas	Pancrea
48	chr11:57566400-57568400	Enhancers	HMEC	breast
49	chr11:57566400-57568600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:57566400-57568600	Enhancers	Rectal Mucosa Donor 29	rectum

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