Variant report

Variant	rs61102415
Chromosome Location	chr7:103087915-103087916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr7:103087603-103087965	GM12878	blood:	n/a	n/a
2	RAD21	chr7:103087412-103088284	MCF-7	breast:	n/a	n/a
3	SMC3	chr7:103087380-103088301	SK-N-SH	brain:	n/a	n/a
4	UBTF	chr7:103087603-103087924	K562	blood:	n/a	n/a
5	RAD21	chr7:103087204-103088289	SK-N-SH	brain:	n/a	n/a
6	ZC3H11A	chr7:103087688-103087956	K562	blood:	n/a	n/a
7	ZNF217	chr7:103087628-103088420	MCF-7	breast:	n/a	n/a
8	SMC3	chr7:103087544-103088014	K562	blood:	n/a	n/a
9	CTCF	chr7:103087187-103088467	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr7:103087590-103088000	IMR90	lung:	n/a	n/a
11	CTCF	chr7:103087283-103088180	A549	lung:	n/a	n/a
12	CTCF	chr7:103087652-103087918	GM19239	blood:	n/a	n/a
13	TBL1XR1	chr7:103087635-103087984	K562	blood:	n/a	n/a
14	CTCF	chr7:103087638-103087916	K562	blood:	n/a	n/a
15	RCOR1	chr7:103087562-103087951	K562	blood:	n/a	n/a
16	CTCF	chr7:103087620-103088001	K562	blood:	n/a	n/a
17	MAZ	chr7:103087610-103087960	K562	blood:	n/a	n/a
18	WRNIP1	chr7:103087745-103088016	GM12878	blood:	n/a	n/a
19	RAD21	chr7:103087634-103087970	A549	lung:	n/a	n/a
20	SMC3	chr7:103087577-103087998	HepG2	liver:	n/a	n/a
21	MAX	chr7:103087467-103087926	K562	blood:	n/a	chr7:103087606-103087615
22	RAD21	chr7:103087561-103087999	IMR90	lung:	n/a	n/a
23	RAD21	chr7:103087500-103088017	HepG2	liver:	n/a	n/a
24	RAD21	chr7:103087603-103087979	K562	blood:	n/a	n/a
25	CTCF	chr7:103087614-103087928	A549	lung:	n/a	n/a
26	E2F6	chr7:103087301-103088040	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr7:103087572-103088056	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr7:103087468-103087969	K562	blood:	n/a	chr7:103087606-103087615
29	RAD21	chr7:103087521-103088030	SK-N-SH_RA	brain:	n/a	n/a
30	RAD21	chr7:103087557-103087975	HepG2	liver:	n/a	n/a
31	RAD21	chr7:103087572-103087958	K562	blood:	n/a	n/a
32	CTCF	chr7:103087605-103088009	K562	blood:	n/a	n/a
33	RAD21	chr7:103087577-103087997	HepG2	liver:	n/a	n/a
34	SIN3AK20	chr7:103087409-103088605	MCF-7	breast:	n/a	n/a
35	CTCF	chr7:103087617-103087919	HepG2	liver:	n/a	n/a
36	RAD21	chr7:103087446-103088131	HCT-116	colon:	n/a	n/a
37	TCF7L2	chr7:103087632-103087977	PANC-1	pancreas:	n/a	n/a
38	CTCF	chr7:103087520-103088041	HCT-116	colon:	n/a	n/a
39	RAD21	chr7:103087513-103088158	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr7:103087610-103087941	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr7:103087397-103087999	H1-hESC	embryonic stem cell:	n/a	chr7:103087606-103087615
42	JUND	chr7:103087615-103087940	K562	blood:	n/a	n/a
43	RAD21	chr7:103087478-103088050	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr7:103087562-103088005	GM12878	blood:	n/a	n/a
45	RAD21	chr7:103087589-103087999	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr7:103087501-103088349	MCF-7	breast:	n/a	n/a
47	CTCF	chr7:103087628-103087916	GM19240	blood:	n/a	n/a
48	RAD21	chr7:103087574-103087926	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr7:103087570-103087990	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr7:103087553-103087969	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103087759..103088353-chr7:103211476..103212301,2	MCF-7	breast:
2	chr7:103087703..103088287-chr7:103213696..103214548,3	K562	blood:
3	chr7:103087468..103088294-chr7:103797372..103797897,2	MCF-7	breast:
4	chr7:103087660..103088653-chr7:103164100..103165409,6	MCF-7	breast:
5	chr7:102937399..102938316-chr7:103087399..103088236,2	K562	blood:
6	chr7:103087318..103087941-chr7:103205673..103206592,2	MCF-7	breast:
7	chr7:102936543..102939393-chr7:103085608..103089565,4	MCF-7	breast:

No data

Variant related genes	Relation type
SLC26A5	TF binding region
ENSG00000105819	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12164066	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57002370	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58199198	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58447419	0.95[EUR][1000 genomes]
rs58909501	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59850329	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60091747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60493985	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6970391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73712348	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73712349	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73712381	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7779597	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr7:103086400-103088000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
2	chr7:103087000-103088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:103087000-103088000	Bivalent Enhancer	Primary T cells from cord blood	blood
4	chr7:103087000-103088000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:103087000-103088000	Enhancers	Brain Substantia Nigra	brain
6	chr7:103087000-103088000	Bivalent Enhancer	HepG2	liver
7	chr7:103087000-103088200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr7:103087000-103088600	Weak transcription	Right Atrium	heart
9	chr7:103087200-103088200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr7:103087200-103088200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
11	chr7:103087400-103088000	Bivalent Enhancer	Brain Germinal Matrix	brain
12	chr7:103087400-103088200	Enhancers	Gastric	stomach
13	chr7:103087400-103088600	Enhancers	Stomach Mucosa	stomach
14	chr7:103087600-103088200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
15	chr7:103087600-103088200	Enhancers	K562	blood
16	chr7:103087800-103088000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr7:103087800-103088000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:103087800-103088000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:103087800-103088000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:103087800-103088000	Bivalent Enhancer	Liver	Liver
21	chr7:103087800-103088000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
22	chr7:103087800-103088000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
23	chr7:103087800-103088000	Bivalent Enhancer	Small Intestine	intestine
24	chr7:103087800-103088000	Bivalent Enhancer	HUVEC	blood vessel
25	chr7:103087800-103088000	Bivalent Enhancer	NHEK	skin
26	chr7:103087800-103088200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
27	chr7:103087800-103088200	Bivalent Enhancer	Fetal Heart	heart
28	chr7:103087800-103088200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr7:103087800-103088200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
30	chr7:103087800-103088400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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