Variant report

Variant	rs57287207
Chromosome Location	chr11:65830021-65830022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr11:65829961-65830192	HepG2	liver:	n/a	chr11:65830061-65830079
2	MAFK	chr11:65829612-65830217	HepG2	liver:	n/a	chr11:65830063-65830078
3	MAFK	chr11:65829996-65830236	IMR90	lung:	n/a	chr11:65830063-65830078
4	MAFK	chr11:65830015-65830212	K562	blood:	n/a	chr11:65830063-65830078
5	MAFF	chr11:65829997-65830192	K562	blood:	n/a	chr11:65830061-65830079
6	MAFK	chr11:65830018-65830218	HepG2	liver:	n/a	chr11:65830063-65830078
7	BACH1	chr11:65829990-65830159	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65769145..65771135-chr11:65826724..65830064,3	MCF-7	breast:
2	chr11:65768235..65770195-chr11:65828585..65830132,2	MCF-7	breast:
3	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:

Variant related genes	Relation type
SF3B2	TF binding region
ENSG00000175334	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1211863	1.00[ASN][1000 genomes]
rs2452683	1.00[ASN][1000 genomes]
rs4930341	1.00[ASN][1000 genomes]
rs540943	1.00[ASN][1000 genomes]
rs57720880	1.00[ASN][1000 genomes]
rs59807152	1.00[ASN][1000 genomes]
rs59827057	1.00[ASN][1000 genomes]
rs60095752	1.00[ASN][1000 genomes]
rs60415795	1.00[ASN][1000 genomes]
rs6591205	1.00[ASN][1000 genomes]
rs6591206	1.00[ASN][1000 genomes]
rs7103495	1.00[ASN][1000 genomes]
rs72932629	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72932698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934632	1.00[ASN][1000 genomes]
rs72934636	1.00[ASN][1000 genomes]
rs72934666	1.00[ASN][1000 genomes]
rs72934668	1.00[ASN][1000 genomes]
rs72934673	1.00[ASN][1000 genomes]
rs7950327	1.00[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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 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	chr11:65821000-65835600	Weak transcription	Right Atrium	heart
2	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:65821200-65832000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:65821200-65832200	Strong transcription	Fetal Muscle Leg	muscle
6	chr11:65821200-65835400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:65821200-65835600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:65821200-65836000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:65821200-65836000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:65821200-65836000	Strong transcription	Fetal Intestine Large	intestine
11	chr11:65821200-65836000	Strong transcription	NHLF	lung
12	chr11:65821200-65836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:65821200-65836600	Strong transcription	Fetal Stomach	stomach
14	chr11:65821400-65830400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:65821400-65831400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:65821400-65831800	Strong transcription	Fetal Intestine Small	intestine
17	chr11:65821400-65831800	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:65821400-65833800	Strong transcription	Placenta	Placenta
19	chr11:65821400-65835200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:65821400-65835200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr11:65821400-65835400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr11:65821400-65835600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:65821400-65835600	Strong transcription	Brain Germinal Matrix	brain
24	chr11:65821400-65835800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:65821400-65836600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:65821600-65835400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:65821600-65835400	Strong transcription	Fetal Thymus	thymus
28	chr11:65821600-65836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:65821800-65831800	Strong transcription	Lung	lung
30	chr11:65821800-65832000	Strong transcription	Brain Cingulate Gyrus	brain
31	chr11:65821800-65832800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:65821800-65833600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:65821800-65833800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:65821800-65835400	Strong transcription	Spleen	Spleen
35	chr11:65821800-65835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:65821800-65835800	Strong transcription	K562	blood
37	chr11:65821800-65836000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr11:65821800-65836000	Strong transcription	Primary T cells from cord blood	blood
39	chr11:65821800-65836600	Strong transcription	Thymus	Thymus
40	chr11:65822000-65831600	Strong transcription	Esophagus	oesophagus
41	chr11:65822000-65831600	Strong transcription	Right Ventricle	heart
42	chr11:65822000-65831600	Strong transcription	HSMMtube	muscle
43	chr11:65822000-65832200	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr11:65822000-65832400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:65822000-65833000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:65822000-65833000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:65822000-65833000	Strong transcription	Left Ventricle	heart
48	chr11:65822000-65833200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr11:65822000-65833800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:65822000-65833800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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