Variant report

Variant	rs1783471
Chromosome Location	chr11:74986340-74986341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74983321..74986512-chr11:74987879..74990018,3	MCF-7	breast:
2	chr11:74983331..74988727-chr11:74991220..74996395,5	K562	blood:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2276310	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2279129	0.82[ASN][1000 genomes]
rs2279130	0.81[ASN][1000 genomes]
rs2510655	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2510656	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35786880	0.84[ASN][1000 genomes]
rs3932962	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74970800-74988200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:74972400-75004400	Weak transcription	Fetal Brain Male	brain
3	chr11:74972800-74987200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:74972800-74991400	Weak transcription	Right Atrium	heart
5	chr11:74975000-74986800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:74975000-74987600	Weak transcription	Small Intestine	intestine
7	chr11:74975200-74986600	Strong transcription	Fetal Intestine Small	intestine
8	chr11:74975200-74988200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:74975200-74988400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:74975200-74991200	Strong transcription	Fetal Stomach	stomach
11	chr11:74975600-74987400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:74975600-74988800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:74975600-74991400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:74975600-74999000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:74975800-74991200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:74976200-74991800	Strong transcription	Lung	lung
17	chr11:74976400-74990200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:74976600-74994200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:74976800-74986800	Strong transcription	Colon Smooth Muscle	Colon
20	chr11:74976800-74987200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:74977400-74990400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:74977800-74986800	Weak transcription	Stomach Mucosa	stomach
23	chr11:74978400-74990400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr11:74978600-74995000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:74979000-74987600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:74979000-74994400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:74979200-74987200	Weak transcription	K562	blood
28	chr11:74980000-74987400	Strong transcription	Fetal Lung	lung
29	chr11:74980000-74991200	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:74982000-74986400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr11:74982000-74988400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:74982000-74989400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:74982000-74991000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:74982000-74991600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:74982200-74990200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:74982200-74990600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:74982200-74991400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr11:74982200-74991600	Strong transcription	Gastric	stomach
39	chr11:74982400-74986400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:74983400-74987800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:74983600-74986600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:74983600-74986600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:74983600-74986600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr11:74983600-74990600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:74983600-74996000	Weak transcription	Aorta	Aorta
46	chr11:74983800-74986400	Enhancers	Primary T cells from cord blood	blood
47	chr11:74983800-74987600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:74983800-74996400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:74984200-74989000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:74984600-74991200	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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