Variant report

Variant	rs575655317
Chromosome Location	chr11:63534890-63534891
allele	C/T
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	SIN3AK20	chr11:63534834-63535234	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr11:63534812-63535381	SK-N-SH	brain:	n/a	n/a
3	SP1	chr11:63534857-63535336	H1-hESC	embryonic stem cell:	n/a	chr11:63535059-63535070 chr11:63535059-63535071 chr11:63535059-63535071
4	RCOR1	chr11:63534889-63535347	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr11:63534806-63536230	SK-N-SH	brain:	n/a	chr11:63535823-63535837 chr11:63535823-63535832 chr11:63535825-63535838 chr11:63535666-63535679 chr11:63535822-63535841 chr11:63535476-63535488
6	TCF12	chr11:63534823-63535346	A549	lung:	n/a	chr11:63535212-63535221
7	TAF1	chr11:63534847-63535348	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr11:63533898-63537592	IMR90	lung:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
9	CTCF	chr11:63534506-63536859	A549	lung:	n/a	chr11:63536572-63536585 chr11:63535824-63535837 chr11:63536692-63536705 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63536570-63536588 chr11:63535824-63535833
10	POLR2A	chr11:63534829-63535089	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr11:63534517-63537808	H1-neurons	neurons:	n/a	chr11:63535702-63535712 chr11:63535771-63535781 chr11:63535790-63535803 chr11:63536356-63536366 chr11:63535815-63535828 chr11:63535778-63535791 chr11:63535775-63535788 chr11:63534588-63534606
12	POLR2A	chr11:63534799-63535335	H1-hESC	embryonic stem cell:	n/a	n/a
13	HEY1	chr11:63534883-63535309	HepG2	liver:	n/a	n/a
14	MAX	chr11:63534794-63535312	ECC-1	luminal epithelium:	n/a	n/a
15	TAF1	chr11:63534870-63535377	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:63534739-63537668	H1-neurons	neurons:	n/a	n/a
17	MAX	chr11:63534821-63535282	SK-N-SH	brain:	n/a	n/a
18	MAX	chr11:63534747-63535472	A549	lung:	n/a	n/a
19	POLR2A	chr11:63534616-63535439	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:63534756-63535378	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr11:63534690-63535479	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:63534650-63537159	HUVEC	blood vessel:	n/a	n/a
23	MXI1	chr11:63534860-63535366	H1-hESC	embryonic stem cell:	n/a	n/a
24	RCOR1	chr11:63534752-63534947	HepG2	liver:	n/a	n/a
25	MAX	chr11:63534837-63535308	ECC-1	luminal epithelium:	n/a	n/a
26	ZNF143	chr11:63534873-63535359	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:63534775-63535445	SK-N-MC	brain:	n/a	n/a
28	JUND	chr11:63534887-63535942	H1-hESC	embryonic stem cell:	n/a	chr11:63535458-63535469
29	SMC3	chr11:63534296-63536180	SK-N-SH	brain:	n/a	chr11:63535823-63535837 chr11:63535827-63535837 chr11:63534468-63534475
30	SIN3A	chr11:63534841-63536070	H1-hESC	embryonic stem cell:	n/a	chr11:63535772-63535781 chr11:63535662-63535673 chr11:63535775-63535786 chr11:63535775-63535788
31	MAX	chr11:63534779-63537214	K562	blood:	n/a	chr11:63535779-63535789 chr11:63535837-63535847
32	POLR2A	chr11:63534852-63535357	PFSK-1	brain:	n/a	n/a
33	MAX	chr11:63534787-63535272	A549	lung:	n/a	n/a
34	SP1	chr11:63534860-63535263	GM12878	blood:	n/a	chr11:63535059-63535070 chr11:63535059-63535071 chr11:63535059-63535071
35	POLR2A	chr11:63534668-63536701	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr11:63534890-63535514	HepG2	liver:	n/a	n/a
37	MXI1	chr11:63534877-63535559	Hela-S3	cervix:	n/a	n/a
38	FOS	chr11:63534870-63535456	HUVEC	blood vessel:	n/a	chr11:63535209-63535220
39	FOSL2	chr11:63534844-63535402	A549	lung:	n/a	n/a
40	TBP	chr11:63534817-63535386	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:63534792-63535521	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63448182..63450282-chr11:63533461..63536298,4	MCF-7	breast:
2	chr11:63533005..63535080-chr11:63601950..63603947,2	MCF-7	breast:
3	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
4	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
5	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
6	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
7	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
8	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
9	chr1:89566099..89566939-chr11:63533954..63534897,2	MCF-7	breast:
10	chr11:63534031..63536529-chr11:63677173..63679815,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATL3-1	chr11:63534858-63534962	NONHSAT021906
2	lnc-ATL3-1	chr11:63534816-63535026	ENSG00000255651.2

Variant related genes	Relation type
C11orf95	TF binding region
ENSG00000168005	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000256280	Chromatin interaction
ENSG00000167771	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv1821734	chr11:63533300-63537509	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3322085	chr11:63534376-63538774	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63531400-63535000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr11:63532400-63535000	Flanking Active TSS	HepG2	liver
3	chr11:63532600-63535000	Weak transcription	Gastric	stomach
4	chr11:63532600-63535200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:63532800-63535000	Enhancers	Pancreas	Pancrea
6	chr11:63532800-63535600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
7	chr11:63533800-63535200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:63533800-63535200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
9	chr11:63534000-63535000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:63534000-63535000	Flanking Active TSS	Hela-S3	cervix
11	chr11:63534200-63535000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:63534200-63535000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:63534200-63535000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:63534200-63535000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:63534200-63535000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:63534200-63535000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr11:63534200-63535000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:63534200-63535000	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr11:63534200-63535000	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr11:63534200-63535000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:63534200-63535000	Enhancers	Stomach Mucosa	stomach
22	chr11:63534200-63535000	Flanking Active TSS	NHLF	lung
23	chr11:63534200-63535400	Flanking Active TSS	HUVEC	blood vessel
24	chr11:63534200-63537400	Active TSS	Fetal Brain Female	brain
25	chr11:63534400-63535000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:63534400-63535000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:63534400-63535000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:63534400-63535000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:63534400-63535000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:63534400-63535000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:63534400-63535000	Flanking Active TSS	Fetal Brain Male	brain
32	chr11:63534400-63535000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr11:63534400-63535000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr11:63534400-63535000	Enhancers	Spleen	Spleen
35	chr11:63534400-63535200	Flanking Active TSS	NH-A	brain
36	chr11:63534400-63535400	Flanking Active TSS	HSMM	muscle
37	chr11:63534400-63535600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:63534400-63535600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:63534400-63535600	Flanking Active TSS	Dnd41	blood
40	chr11:63534400-63537400	Active TSS	HSMMtube	muscle
41	chr11:63534400-63537600	Active TSS	Brain Angular Gyrus	brain
42	chr11:63534600-63535000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:63534600-63535000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:63534600-63535000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr11:63534600-63535000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:63534600-63535000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:63534600-63535000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr11:63534600-63535000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:63534600-63535000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:63534600-63535000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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