Variant report

Variant	rs1322455
Chromosome Location	chr6:114197961-114197962
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr6:114197867-114198139	SK-N-SH_RA	brain:	n/a	chr6:114198002-114198014
2	CTCF	chr6:114197840-114197990	GM12875	blood:	n/a	n/a
3	CTCF	chr6:114197840-114197990	HMEC	breast:	n/a	n/a
4	CTCF	chr6:114197840-114197990	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:114197869-114198069	HepG2	liver:	n/a	n/a
6	CTCF	chr6:114197860-114198010	HVMF	connective:	n/a	n/a
7	CTCF	chr6:114197860-114198010	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr6:114197820-114197970	HCFaa	heart:	n/a	n/a
9	YY1	chr6:114197895-114198150	GM12878	blood:	n/a	chr6:114198002-114198014
10	CTCF	chr6:114197780-114198030	HEK293	kidney:	n/a	n/a
11	YY1	chr6:114197861-114198167	H1-hESC	embryonic stem cell:	n/a	chr6:114198002-114198014
12	CTCF	chr6:114197920-114198070	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr6:114197860-114198010	RPTEC	kidney:	n/a	n/a
14	RAD21	chr6:114197875-114198077	HepG2	liver:	n/a	n/a
15	GATA3	chr6:114197828-114198479	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr6:114197795-114198097	K562	blood:	n/a	n/a
17	CTCF	chr6:114197900-114198050	Hela-S3	cervix:	n/a	n/a
18	YY1	chr6:114197881-114198137	K562	blood:	n/a	chr6:114198002-114198014
19	YY1	chr6:114197831-114198192	H1-hESC	embryonic stem cell:	n/a	chr6:114198002-114198014
20	CTCF	chr6:114197900-114198050	GM12875	blood:	n/a	n/a
21	CTCF	chr6:114197869-114198048	HepG2	liver:	n/a	n/a
22	CTCF	chr6:114197913-114198017	Gliobla	brain:	n/a	n/a
23	CTCF	chr6:114197900-114198050	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr6:114197793-114198060	K562	blood:	n/a	n/a
25	CTCF	chr6:114197920-114198070	SAEC	small airway:	n/a	n/a
26	CTCF	chr6:114197877-114198044	K562	blood:	n/a	n/a
27	CTCF	chr6:114197900-114198050	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr6:114197921-114198025	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:114197860-114198010	AG10803	skin:	n/a	n/a
30	YY1	chr6:114197842-114198195	SK-N-SH	brain:	n/a	chr6:114198002-114198014
31	CTCF	chr6:114197900-114198050	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr6:114197928-114197984	MCF-7	breast:	n/a	n/a
33	CTCF	chr6:114197880-114198030	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:114197920-114198070	HEK293	kidney:	n/a	n/a
35	CTCF	chr6:114197867-114198054	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr6:114197960-114198110	GM12870	blood:	n/a	n/a
37	CTCF	chr6:114197860-114198010	HCT-116	colon:	n/a	n/a
38	CTCF	chr6:114197912-114197999	HepG2	liver:	n/a	n/a
39	RAD21	chr6:114197850-114198108	HepG2	liver:	n/a	n/a
40	YY1	chr6:114197837-114198185	HepG2	liver:	n/a	chr6:114198002-114198014
41	CTCF	chr6:114197940-114198090	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr6:114197860-114198010	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr6:114197860-114198010	K562	blood:	n/a	n/a
44	CTCF	chr6:114197960-114198110	GM12869	blood:	n/a	n/a
45	CTCF	chr6:114197940-114198090	HepG2	liver:	n/a	n/a
46	CTCF	chr6:114197880-114198030	A549	lung:	n/a	n/a
47	YY1	chr6:114197828-114198109	HCT-116	colon:	n/a	chr6:114198002-114198014
48	YY1	chr6:114197822-114198164	SK-N-SH_RA	brain:	n/a	chr6:114198002-114198014
49	CTCF	chr6:114197780-114198070	HVMF	connective:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114189552..114191515-chr6:114197887..114199527,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227502	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10499076	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11153452	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169507	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs352079	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4562174	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945504	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4945977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945979	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945981	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7751759	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7763868	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9320472	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9374431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114181000-114200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:114183800-114200200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:114183800-114200400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:114184000-114200200	Weak transcription	Fetal Kidney	kidney
5	chr6:114194400-114202000	Weak transcription	Ovary	ovary
6	chr6:114194600-114200400	Weak transcription	Fetal Lung	lung
7	chr6:114194600-114202000	Weak transcription	Lung	lung
8	chr6:114194800-114199400	Weak transcription	HUVEC	blood vessel
9	chr6:114194800-114200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:114195000-114200400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:114195000-114200400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:114195000-114200400	Weak transcription	Liver	Liver
13	chr6:114195000-114200400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:114195200-114200000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:114195400-114200200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:114195400-114200400	Weak transcription	Fetal Intestine Large	intestine
17	chr6:114196000-114198200	Enhancers	NHDF-Ad	bronchial
18	chr6:114196200-114198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:114196800-114200400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:114196800-114200400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:114196800-114200400	Weak transcription	HepG2	liver
22	chr6:114197000-114198000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:114197000-114199400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:114197000-114199400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:114197000-114199400	Weak transcription	Osteobl	bone
26	chr6:114197000-114200200	Weak transcription	HSMM	muscle
27	chr6:114197000-114200400	Weak transcription	NH-A	brain
28	chr6:114197200-114200000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:114197200-114200400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:114197200-114200400	Weak transcription	Muscle Satellite Cultured Cells	--

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