Variant report

Variant	rs61034691
Chromosome Location	chr1:197326373-197326374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:197326034-197326497	T-47D	breast:	n/a	n/a
2	ARID3A	chr1:197326173-197326405	HepG2	liver:	n/a	n/a
3	TEAD4	chr1:197326059-197326470	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr1:197326013-197326451	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr1:197326042-197326440	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:197326179-197326375	GM10248	blood:	n/a	n/a
7	ZNF143	chr1:197326101-197326426	GM12878	blood:	n/a	n/a
8	CTCF	chr1:197326065-197326415	HepG2	liver:	n/a	n/a
9	RFX5	chr1:197326091-197326432	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr1:197326050-197326396	T-47D	breast:	n/a	n/a
11	CTCF	chr1:197326240-197326390	GM12870	blood:	n/a	n/a
12	RAD21	chr1:197325986-197326442	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr1:197326137-197326387	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr1:197326034-197326394	HepG2	liver:	n/a	n/a
15	CTCF	chr1:197326080-197326381	ECC-1	luminal epithelium:	n/a	n/a
16	ZNF143	chr1:197326123-197326403	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:197326045-197326476	GM12878	blood:	n/a	n/a
18	RAD21	chr1:197326086-197326433	A549	lung:	n/a	n/a
19	SMC3	chr1:197325708-197326596	SK-N-SH	brain:	n/a	n/a
20	RAD21	chr1:197325937-197326490	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr1:197326125-197326408	Medullo	brain:	n/a	n/a
22	CTCF	chr1:197326081-197326407	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:197326176-197326377	GM10266	blood:	n/a	n/a
24	FOXA2	chr1:197326096-197326502	A549	lung:	n/a	n/a
25	RAD21	chr1:197326031-197326432	MCF-7	breast:	n/a	n/a
26	RAD21	chr1:197325863-197326670	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr1:197326147-197326389	LNCaP	prostate:	n/a	n/a
28	CTCF	chr1:197326159-197326386	GM13977	blood:	n/a	n/a
29	RCOR1	chr1:197326072-197326381	K562	blood:	n/a	n/a
30	RAD21	chr1:197325856-197326491	SK-N-SH_RA	brain:	n/a	n/a
31	SMC3	chr1:197326044-197326439	HepG2	liver:	n/a	n/a
32	RAD21	chr1:197326023-197326462	IMR90	lung:	n/a	n/a
33	RAD21	chr1:197326013-197326445	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr1:197326056-197326400	Gliobla	brain:	n/a	n/a
35	RAD21	chr1:197325838-197326588	HCT-116	colon:	n/a	n/a
36	RAD21	chr1:197325976-197326484	A549	lung:	n/a	n/a
37	ARID3A	chr1:197326110-197326399	K562	blood:	n/a	n/a
38	RAD21	chr1:197326040-197326405	HepG2	liver:	n/a	n/a
39	CTCF	chr1:197325964-197326466	IMR90	lung:	n/a	n/a
40	CTCF	chr1:197326169-197326392	LNCaP	prostate:	n/a	n/a
41	RAD21	chr1:197325893-197326575	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:197325941-197326516	HCT-116	colon:	n/a	n/a
43	ZMIZ1	chr1:197326039-197326395	K562	blood:	n/a	n/a
44	ZNF143	chr1:197326098-197326468	K562	blood:	n/a	n/a
45	RAD21	chr1:197325875-197326510	HCT-116	colon:	n/a	n/a
46	CTCF	chr1:197326120-197326438	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr1:197326139-197326395	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr1:197325904-197326573	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:197326094-197326427	A549	lung:	n/a	n/a
50	YY1	chr1:197326098-197326383	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197149215..197150102-chr1:197326053..197326779,3	MCF-7	breast:
2	chr1:197296422..197297040-chr1:197325910..197326604,2	MCF-7	breast:
3	chr1:197296672..197297586-chr1:197325782..197326703,4	K562	blood:
4	chr1:197296323..197297408-chr1:197325745..197326738,7	MCF-7	breast:
5	chr1:197148748..197149958-chr1:197325829..197326773,3	MCF-7	breast:
6	chr1:197193137..197194020-chr1:197325790..197326689,5	MCF-7	breast:
7	chr1:196712193..196713017-chr1:197326079..197326750,3	MCF-7	breast:
8	chr1:197149241..197150078-chr1:197325625..197326699,7	K562	blood:

No data

Variant related genes	Relation type
CRB1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13375540	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17618450	0.98[EUR][1000 genomes]
rs2821110	0.92[EUR][1000 genomes]
rs2821111	1.00[EUR][1000 genomes]
rs2821120	0.95[EUR][1000 genomes]
rs28553459	0.98[EUR][1000 genomes]
rs61458598	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197316200-197329200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:197324000-197338800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:197324000-197347000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:197324600-197327400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:197325600-197329200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:197325800-197326400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:197326200-197326400	Enhancers	Ovary	ovary
8	chr1:197326200-197329400	Weak transcription	Brain Anterior Caudate	brain

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