Variant report

Variant	rs633671
Chromosome Location	chr11:64793865-64793866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
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	POLR2A	chr11:64793847-64793935	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64793846-64793896	HCM	heart:	n/a
2	chr11:64793846-64793896	ECC-1	luminal epithelium:	n/a
3	chr11:64793846-64793896	RPTEC	kidney:	n/a
4	chr11:64793846-64793896	GM12891	blood:	n/a
5	chr11:64793846-64793896	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:64793846-64793896	GM12878	blood:	n/a
7	chr11:64793846-64793896	HMEC	breast:	n/a
8	chr11:64793846-64793896	SK-N-MC	brain:	n/a
9	chr11:64793846-64793896	AG04450	lung:	fetal
10	chr11:64793846-64793896	GM12892	blood:	n/a
11	chr11:64793846-64793896	Jurkat	blood:	n/a
12	chr11:64793846-64793896	HNPCEpiC	eye:	n/a
13	chr11:64793846-64793896	HCF	heart:	n/a
14	chr11:64793846-64793896	IMR90	lung:	fetal
15	chr11:64793846-64793896	SAEC	small airway:	n/a
16	chr11:64793846-64793896	SK-N-SH_RA	brain:	n/a
17	chr11:64793846-64793896	CMK	blood:	n/a
18	chr11:64793846-64793896	PrEC	prostate:	n/a
19	chr11:64793846-64793896	K562	blood:	n/a
20	chr11:64793846-64793896	NHDF-neo	bronchial:	n/a
21	chr11:64793846-64793896	MCF10A-Er-Src	breast:	n/a
22	chr11:64793846-64793896	HRPEpiC	eye:	n/a
23	chr11:64793846-64793896	BJ	skin:	n/a
24	chr11:64793846-64793896	HIPEpiC	eye:	n/a
25	chr11:64793846-64793896	HEEpiC	esophagus:	n/a
26	chr11:64793846-64793896	HL-60	blood:	n/a
27	chr11:64793846-64793896	HCT-116	colon:	n/a
28	chr11:64793846-64793896	HepG2	liver:	n/a
29	chr11:64793846-64793896	AG09309	skin:	n/a
30	chr11:64793846-64793896	A549	lung:	n/a
31	chr11:64793846-64793896	SKMC	muscle:	n/a
32	chr11:64793846-64793896	NT2-D1	testis:	n/a
33	chr11:64793846-64793896	SK-N-SH	brain:	n/a
34	chr11:64793846-64793896	AG09319	gingival:	n/a
35	chr11:64793846-64793896	NB4	blood:	n/a
36	chr11:64793846-64793896	AG04449	skin:	fetal
37	chr11:64793846-64793896	HCPEpiC	choroid plexus:	n/a
38	chr11:64793846-64793896	LNCaP	prostate:	n/a
39	chr11:64793846-64793896	HAEpiC	amniotic membrane:	n/a
40	chr11:64793846-64793896	GM06990	blood:	n/a
41	chr11:64793846-64793896	ProgFib	skin:	n/a
42	chr11:64793846-64793896	AoSMC	blood vessel:	n/a
43	chr11:64793846-64793896	MCF-7	breast:	n/a
44	chr11:64793846-64793896	ovcar-3	ovarian:	n/a
45	chr11:64793846-64793896	T-47D	breast:	n/a
46	chr11:64793846-64793896	GM19239	blood:	n/a
47	chr11:64793846-64793896	AG10803	skin:	n/a
48	chr11:64793846-64793896	HEK293	kidney:	embryo
49	chr11:64793846-64793896	Hepatocyte	liver:	n/a
50	chr11:64793846-64793896	BE2_C	brain:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64781095..64782950-chr11:64792399..64795150,2	MCF-7	breast:
2	chr11:64793282..64795774-chr11:64807101..64811680,5	K562	blood:
3	chr11:64610680..64612429-chr11:64793664..64796204,2	MCF-7	breast:
4	chr11:64793339..64795778-chr11:64887755..64890095,2	K562	blood:
5	chr11:64779606..64783503-chr11:64793292..64796940,8	MCF-7	breast:
6	chr11:64793389..64797015-chr11:64806765..64809007,6	K562	blood:
7	chr11:64643878..64648186-chr11:64793107..64797470,5	K562	blood:
8	chr11:64793560..64795544-chr11:64899674..64902650,3	K562	blood:
9	chr11:64793697..64796700-chr11:64806482..64812345,9	MCF-7	breast:
10	chr11:64785686..64787909-chr11:64793264..64794795,2	MCF-7	breast:
11	chr11:64793687..64796323-chr11:64849331..64852233,3	K562	blood:
12	chr11:64793181..64796302-chr11:64849635..64852378,4	MCF-7	breast:
13	chr11:64545086..64548013-chr11:64793511..64795283,2	K562	blood:
14	chr11:64793292..64796781-chr11:64862367..64865846,4	K562	blood:
15	chr11:64792804..64795022-chr11:64876494..64879449,2	K562	blood:
16	chr11:64793793..64795353-chr11:64806843..64809654,4	MCF-7	breast:
17	chr11:64793383..64797474-chr11:64849331..64856424,6	K562	blood:
18	chr11:64654999..64656996-chr11:64793791..64795632,2	K562	blood:
19	chr11:64793819..64796993-chr11:64862794..64865846,5	K562	blood:
20	chr11:64788523..64790432-chr11:64793219..64795287,2	K562	blood:
21	chr11:64793758..64795371-chr11:64862909..64865149,3	MCF-7	breast:

No data

Variant related genes	Relation type
SNX15	TF binding region
SNX15	CpG island
ENSG00000168066	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000168061	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10088	0.82[CEU][hapmap]
rs10160811	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10792455	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1196051	0.82[CEU][hapmap]
rs17146589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34589041	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs473587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481446	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs484147	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494837	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs497023	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533164	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs533301	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs542175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs550771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs561524	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs584698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs608772	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs613352	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs664118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689361	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7939766	0.82[CEU][hapmap]

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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer 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
5	nsv983034	chr11:64792946-64795254	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64782400-64794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:64782600-64794200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:64782600-64794400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:64782600-64794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:64782600-64794400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:64782600-64794400	Weak transcription	Small Intestine	intestine
7	chr11:64782600-64794400	Weak transcription	HSMMtube	muscle
8	chr11:64782600-64794400	Weak transcription	HUVEC	blood vessel
9	chr11:64782600-64794400	Weak transcription	NH-A	brain
10	chr11:64782600-64794400	Weak transcription	NHDF-Ad	bronchial
11	chr11:64782600-64794600	Weak transcription	Right Atrium	heart
12	chr11:64783000-64794400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:64783000-64794400	Weak transcription	Stomach Mucosa	stomach
14	chr11:64783800-64794400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:64784000-64794400	Weak transcription	Primary B cells from cord blood	blood
16	chr11:64784000-64794400	Weak transcription	Fetal Brain Male	brain
17	chr11:64784200-64794400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:64786400-64794200	Weak transcription	Osteobl	bone
19	chr11:64786400-64794400	Weak transcription	HSMM	muscle
20	chr11:64786600-64794400	Weak transcription	HMEC	breast
21	chr11:64786600-64794600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:64787600-64794400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:64787600-64794400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:64787600-64794400	Weak transcription	Fetal Kidney	kidney
25	chr11:64787600-64794400	Weak transcription	GM12878-XiMat	blood
26	chr11:64787800-64794400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:64787800-64794400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:64788200-64794600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:64788800-64794200	Weak transcription	NHEK	skin
30	chr11:64788800-64794400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:64788800-64794800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:64789000-64794200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:64789000-64794400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:64789200-64794200	Weak transcription	Esophagus	oesophagus
35	chr11:64789200-64794400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:64789200-64794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:64789400-64794200	Weak transcription	NHLF	lung
38	chr11:64789400-64794400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:64789400-64794400	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:64789400-64794400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:64789600-64794400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:64789600-64794400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:64789600-64794400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:64789600-64794400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:64789600-64794400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:64789600-64794600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:64789600-64794600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:64789600-64794600	Weak transcription	Right Ventricle	heart
49	chr11:64789800-64794200	Weak transcription	Dnd41	blood
50	chr11:64789800-64794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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