Variant report

Variant	rs17159704
Chromosome Location	chr7:112120476-112120477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:112120440-112120590	HVMF	connective:	n/a	n/a
2	RAD21	chr7:112120312-112120872	MCF-7	breast:	n/a	chr7:112120610-112120623 chr7:112120607-112120626 chr7:112120612-112120622 chr7:112120612-112120624
3	SMC3	chr7:112120441-112120793	HepG2	liver:	n/a	chr7:112120608-112120622
4	RAD21	chr7:112120359-112121012	SK-N-SH_RA	brain:	n/a	chr7:112120610-112120623 chr7:112120607-112120626 chr7:112120612-112120622 chr7:112120612-112120624
5	POLR2A	chr7:112120396-112120694	HCT-116	colon:	n/a	n/a
6	SMC3	chr7:112120431-112120760	K562	blood:	n/a	chr7:112120608-112120622
7	CTCF	chr7:112120460-112120610	WI-38	lung:	n/a	n/a
8	SMC3	chr7:112120453-112120837	Hela-S3	cervix:	n/a	chr7:112120608-112120622
9	POLR2A	chr7:112120385-112121054	H1-neurons	neurons:	n/a	n/a
10	CTCF	chr7:112120454-112120749	A549	lung:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
11	RAD21	chr7:112120435-112120817	Hela-S3	cervix:	n/a	chr7:112120610-112120623 chr7:112120607-112120626 chr7:112120612-112120622 chr7:112120612-112120624
12	POLR2A	chr7:112120349-112121046	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr7:112120440-112120590	HCM	heart:	n/a	n/a
14	EP300	chr7:112120254-112122906	SK-N-SH	brain:	n/a	chr7:112122125-112122134 chr7:112122126-112122135 chr7:112121586-112121595
15	CTCF	chr7:112120465-112120686	Medullo	brain:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
16	CTCF	chr7:112120445-112120712	HepG2	liver:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
17	CTCF	chr7:112120413-112120864	K562	blood:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
18	RAD21	chr7:112120396-112120852	A549	lung:	n/a	chr7:112120610-112120623 chr7:112120607-112120626 chr7:112120612-112120622 chr7:112120612-112120624
19	RAD21	chr7:112120450-112120872	IMR90	lung:	n/a	chr7:112120610-112120623 chr7:112120607-112120626 chr7:112120612-112120622 chr7:112120612-112120624
20	CTCF	chr7:112120400-112120550	GM12866	blood:	n/a	n/a
21	RAD21	chr7:112120421-112120922	HCT-116	colon:	n/a	chr7:112120610-112120623 chr7:112120607-112120626 chr7:112120612-112120622 chr7:112120612-112120624
22	POLR2A	chr7:112115869-112121327	K562	blood:	n/a	n/a
23	POLR2A	chr7:112120438-112120840	U87	brain:	n/a	n/a
24	CTCF	chr7:112120336-112120870	HCT-116	colon:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
25	CTCF	chr7:112120359-112120876	MCF-7	breast:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
26	CTCF	chr7:112120442-112120796	IMR90	lung:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
27	POLR2A	chr7:112120402-112121457	HepG2	liver:	n/a	n/a
28	CREB1	chr7:112120446-112121141	K562	blood:	n/a	n/a
29	REST	chr7:112120261-112121177	H1-neurons	neurons:	n/a	n/a
30	CTCF	chr7:112120237-112121016	A549	lung:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
31	CTCF	chr7:112120454-112120717	SK-N-SH_RA	brain:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
32	ATF1	chr7:112120454-112121113	K562	blood:	n/a	n/a
33	CTCF	chr7:112120471-112120753	Gliobla	brain:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
34	SMC3	chr7:112120050-112122407	SK-N-SH	brain:	n/a	chr7:112120608-112120622
35	CTCF	chr7:112120434-112120791	GM12878	blood:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
36	KAP1	chr7:112120431-112120909	HEK293	kidney:	n/a	n/a
37	RAD21	chr7:112120390-112120969	HCT-116	colon:	n/a	chr7:112120610-112120623 chr7:112120607-112120626 chr7:112120612-112120622 chr7:112120612-112120624
38	GATA3	chr7:112120449-112122534	SK-N-SH	brain:	n/a	chr7:112121587-112121596
39	RAD21	chr7:112120373-112120774	H1-hESC	embryonic stem cell:	n/a	chr7:112120610-112120623 chr7:112120607-112120626 chr7:112120612-112120622 chr7:112120612-112120624
40	CTCF	chr7:112120276-112121123	SK-N-SH	brain:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
41	CTCF	chr7:112120449-112120795	A549	lung:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
42	POLR2A	chr7:112120432-112121067	H1-neurons	neurons:	n/a	n/a
43	RAD21	chr7:112120413-112120787	SK-N-SH_RA	brain:	n/a	chr7:112120610-112120623 chr7:112120607-112120626 chr7:112120612-112120622 chr7:112120612-112120624
44	POLR2A	chr7:112119412-112121092	Hela-S3	cervix:	n/a	n/a
45	TEAD4	chr7:112120391-112121205	K562	blood:	n/a	n/a
46	POLR2A	chr7:112120430-112121023	MCF-7	breast:	n/a	n/a
47	CTCF	chr7:112120408-112120774	K562	blood:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
48	CREB1	chr7:112120424-112121235	K562	blood:	n/a	n/a
49	CTCF	chr7:112120357-112120889	MCF-7	breast:	n/a	chr7:112120608-112120629 chr7:112120609-112120622 chr7:112120606-112120624
50	RAD21	chr7:112120459-112120946	MCF-7	breast:	n/a	chr7:112120610-112120623 chr7:112120607-112120626 chr7:112120612-112120622 chr7:112120612-112120624

No.	Distal block	Cell Line	Cell type
1	chr7:112089471..112094125-chr7:112120459..112123941,5	MCF-7	breast:
2	chr7:112107719..112109774-chr7:112119889..112122320,2	K562	blood:
3	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
4	chr7:112096348..112097855-chr7:112118950..112121357,2	MCF-7	breast:
5	chr7:112089441..112091037-chr7:112120327..112123054,3	MCF-7	breast:
6	chr7:112113015..112114902-chr7:112118169..112120483,2	MCF-7	breast:

Variant related genes	Relation type
LSMEM1	TF binding region
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10258413	1.00[CEU][hapmap]
rs10273461	1.00[CEU][hapmap]
rs17159613	1.00[CEU][hapmap]
rs2041068	0.87[ASN][1000 genomes]
rs3095043	1.00[JPT][hapmap]
rs3128380	1.00[ASN][1000 genomes]
rs4727767	1.00[CEU][hapmap]
rs4730523	1.00[CEU][hapmap]

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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112092600-112121800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:112094000-112121400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:112096400-112121600	Strong transcription	Liver	Liver
4	chr7:112096400-112121800	Weak transcription	Stomach Mucosa	stomach
5	chr7:112100600-112135000	Weak transcription	Esophagus	oesophagus
6	chr7:112103600-112121200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:112103600-112121800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:112105600-112121800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:112107800-112120800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:112110600-112124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:112111200-112127200	Weak transcription	Fetal Brain Male	brain
12	chr7:112111600-112122200	Weak transcription	Fetal Kidney	kidney
13	chr7:112112400-112121800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:112112400-112122200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:112112600-112129000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:112112800-112120600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:112112800-112120600	Weak transcription	Brain Angular Gyrus	brain
18	chr7:112113200-112122600	Weak transcription	Colonic Mucosa	Colon
19	chr7:112113200-112124600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:112113200-112124800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:112113200-112125000	Weak transcription	Right Ventricle	heart
22	chr7:112113400-112127600	Weak transcription	Spleen	Spleen
23	chr7:112114200-112120600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:112114400-112120800	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:112114400-112132000	Weak transcription	HepG2	liver
26	chr7:112114600-112121800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:112114600-112125000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:112116400-112121000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:112116400-112122000	Weak transcription	Fetal Lung	lung
30	chr7:112116600-112120600	Weak transcription	Brain Anterior Caudate	brain
31	chr7:112116600-112120600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:112116600-112120600	Weak transcription	HMEC	breast
33	chr7:112116600-112122000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:112116800-112121200	Weak transcription	NHEK	skin
35	chr7:112116800-112132200	Weak transcription	Fetal Intestine Small	intestine
36	chr7:112117000-112120800	Weak transcription	Brain Substantia Nigra	brain
37	chr7:112117000-112122000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:112117000-112122200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:112117200-112120600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:112117200-112120600	Weak transcription	Left Ventricle	heart
41	chr7:112117200-112120600	Weak transcription	Osteobl	bone
42	chr7:112117200-112121000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:112117200-112121600	Weak transcription	Small Intestine	intestine
44	chr7:112117200-112121800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:112117200-112121800	Weak transcription	Ovary	ovary
46	chr7:112117200-112125200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:112117200-112127200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:112117200-112128800	Weak transcription	Dnd41	blood
49	chr7:112117400-112120600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:112117400-112120600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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