Variant report

Variant	rs310597
Chromosome Location	chr7:150873046-150873047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:150872903-150873084	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr7:150872920-150873070	HepG2	liver:	n/a	n/a
3	RFX5	chr7:150872819-150873389	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:150872960-150873110	GM06990	blood:	n/a	n/a
5	RAD21	chr7:150872867-150873101	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCFL	chr7:150872889-150873059	K562	blood:	n/a	n/a
7	CTCF	chr7:150872900-150873050	BE2_C	brain:	n/a	n/a
8	CTCF	chr7:150872798-150873100	K562	blood:	n/a	n/a
9	CTCF	chr7:150872791-150873196	K562	blood:	n/a	n/a
10	CTCF	chr7:150872892-150873102	MCF-7	breast:	n/a	n/a
11	CTCF	chr7:150872920-150873070	HEK293	kidney:	n/a	n/a
12	CTCF	chr7:150872898-150873088	NHEK	skin:	n/a	n/a
13	CTCF	chr7:150873000-150873150	HCT-116	colon:	n/a	n/a
14	CTCF	chr7:150872914-150873083	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:150872875-150873126	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr7:150872884-150873099	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:150872673-150873272	A549	lung:	n/a	n/a
18	CTCF	chr7:150872960-150873110	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr7:150873000-150873150	HRE	kidney:	n/a	n/a
20	CTCF	chr7:150872787-150873256	MCF-7	breast:	n/a	n/a
21	CTCF	chr7:150872940-150873090	K562	blood:	n/a	n/a
22	CTCF	chr7:150872920-150873070	GM12869	blood:	n/a	n/a
23	CTCF	chr7:150872940-150873230	SAEC	small airway:	n/a	n/a
24	CTCF	chr7:150872940-150873090	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr7:150872920-150873070	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr7:150872980-150873130	HRE	kidney:	n/a	n/a
27	CTCF	chr7:150872900-150873050	HMEC	breast:	n/a	n/a
28	TCF12	chr7:150872839-150873122	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:150872904-150873083	A549	lung:	n/a	n/a
30	CTCF	chr7:150872920-150873070	NHEK	skin:	n/a	n/a
31	CTCF	chr7:150873000-150873150	SAEC	small airway:	n/a	n/a
32	CTCF	chr7:150872902-150873083	Gliobla	brain:	n/a	n/a
33	CTCF	chr7:150872920-150873070	K562	blood:	n/a	n/a
34	CTCF	chr7:150872960-150873110	Caco-2	colon:	n/a	n/a
35	CTCF	chr7:150872942-150873050	LNCaP	prostate:	n/a	n/a
36	CTCF	chr7:150872940-150873090	MCF-7	breast:	n/a	n/a
37	CTCF	chr7:150872912-150873089	A549	lung:	n/a	n/a
38	CTCF	chr7:150872900-150873100	K562	blood:	n/a	n/a
39	RAD21	chr7:150872898-150873388	H1-hESC	embryonic stem cell:	n/a	chr7:150873099-150873113
40	CTCF	chr7:150872960-150873110	GM12875	blood:	n/a	n/a
41	MAX	chr7:150872790-150873464	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3A	chr7:150872972-150873172	H1-hESC	embryonic stem cell:	n/a	chr7:150873164-150873172
43	CTCF	chr7:150872900-150873050	MCF-7	breast:	n/a	n/a
44	CTCF	chr7:150872839-150873151	K562	blood:	n/a	n/a
45	CTCF	chr7:150872900-150873050	HCPEpiC	choroid plexus:	n/a	n/a
46	RAD21	chr7:150872908-150873053	K562	blood:	n/a	n/a
47	CTCF	chr7:150872900-150873050	HRPEpiC	eye:	n/a	n/a
48	JUN	chr7:150872858-150873159	K562	blood:	n/a	n/a
49	CTCF	chr7:150872775-150873197	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr7:150872958-150873046	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150863087..150865291-chr7:150871915..150873592,2	K562	blood:
2	chr7:150811393..150813033-chr7:150871276..150873059,2	MCF-7	breast:
3	chr7:150722965..150724842-chr7:150872237..150873917,2	MCF-7	breast:
4	chr7:150775965..150777696-chr7:150873040..150874759,2	K562	blood:
5	chr7:150872087..150875042-chr7:150939202..150940753,2	K562	blood:
6	chr7:150872457..150873456-chr7:151000247..151001139,5	MCF-7	breast:
7	chr7:150820753..150821766-chr7:150872510..150873067,3	MCF-7	breast:
8	chr7:150863436..150865058-chr7:150871430..150873448,2	MCF-7	breast:
9	chr7:150821015..150821776-chr7:150872303..150873090,3	K562	blood:

No data

Variant related genes	Relation type
GBX1	TF binding region
ENSG00000082014	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000164900	Chromatin interaction
ENSG00000164896	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1430624	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs310592	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs310593	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs310595	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs310598	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs310599	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs45917	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4726005	0.95[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs768403	0.84[CEU][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv609034	chr7:150830015-150893629	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150865600-150877800	Weak transcription	Right Atrium	heart
2	chr7:150868600-150877800	Weak transcription	Left Ventricle	heart
3	chr7:150872000-150877800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
4	chr7:150872600-150873200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr7:150872600-150873600	Strong transcription	Right Ventricle	heart
6	chr7:150872800-150873400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:150873000-150873200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:150873000-150873200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:150873000-150873400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr7:150873000-150873400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:150873000-150873600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:150873000-150873600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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