Variant report

Variant	rs17231124
Chromosome Location	chr7:84159432-84159433
allele	A/T
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	EP300	chr7:84158548-84159957	SK-N-SH	brain:	n/a	chr7:84158703-84158717 chr7:84159530-84159538
2	MAX	chr7:84158560-84159565	A549	lung:	n/a	n/a
3	EP300	chr7:84159029-84159640	SK-N-SH_RA	brain:	n/a	chr7:84159530-84159538
4	EP300	chr7:84158611-84159465	MCF-7	breast:	n/a	chr7:84158703-84158717
5	TEAD4	chr7:84158499-84159447	A549	lung:	n/a	n/a
6	CEBPB	chr7:84158543-84159457	A549	lung:	n/a	n/a
7	TCF12	chr7:84158498-84159489	MCF-7	breast:	n/a	chr7:84158535-84158542
8	GATA3	chr7:84158464-84159519	MCF-7	breast:	n/a	chr7:84158618-84158628 chr7:84158937-84158945
9	YY1	chr7:84159253-84159610	SK-N-SH_RA	brain:	n/a	chr7:84159578-84159594
10	PBX3	chr7:84158829-84159544	SK-N-SH	brain:	n/a	n/a
11	EP300	chr7:84159036-84159577	SK-N-SH_RA	brain:	n/a	chr7:84159530-84159538
12	FOSL2	chr7:84158646-84159486	SK-N-SH	brain:	n/a	n/a
13	KAP1	chr7:84158797-84159475	U2OS	brain:	n/a	n/a
14	GATA3	chr7:84158208-84159538	MCF-7	breast:	n/a	chr7:84158618-84158628 chr7:84158937-84158945
15	GATA3	chr7:84158397-84159641	A549	lung:	n/a	chr7:84158618-84158628 chr7:84158937-84158945
16	MAFK	chr7:84158113-84159442	Hela-S3	cervix:	n/a	chr7:84159075-84159091
17	EP300	chr7:84158395-84159504	A549	lung:	n/a	chr7:84158703-84158717
18	TCF12	chr7:84158230-84159567	A549	lung:	n/a	chr7:84158535-84158542
19	MAX	chr7:84158592-84159510	A549	lung:	n/a	n/a
20	TCF12	chr7:84158671-84159789	SK-N-SH	brain:	n/a	chr7:84159733-84159742
21	BCL3	chr7:84158630-84159471	A549	lung:	n/a	n/a
22	GATA3	chr7:84158600-84159579	SK-N-SH	brain:	n/a	chr7:84158618-84158628 chr7:84158937-84158945
23	GATA3	chr7:84158723-84159638	SK-N-SH	brain:	n/a	chr7:84158937-84158945
24	TCF12	chr7:84158569-84159631	SK-N-SH	brain:	n/a	n/a
25	SP1	chr7:84158443-84159535	A549	lung:	n/a	n/a
26	PBX3	chr7:84158784-84159532	SK-N-SH	brain:	n/a	n/a
27	SP1	chr7:84158436-84159576	A549	lung:	n/a	n/a
28	FOXM1	chr7:84158386-84159550	MCF-7	breast:	n/a	n/a
29	POLR2A	chr7:84159060-84159435	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr7:84159068-84159501	SK-N-SH	brain:	n/a	n/a
31	SMC3	chr7:84158651-84159458	Hela-S3	cervix:	n/a	n/a
32	BCL3	chr7:84158463-84159465	A549	lung:	n/a	n/a
33	SIN3AK20	chr7:84158596-84159433	MCF-7	breast:	n/a	n/a
34	GATA3	chr7:84158684-84159457	A549	lung:	n/a	chr7:84158937-84158945
35	CEBPB	chr7:84158614-84159521	Hela-S3	cervix:	n/a	n/a
36	FOSL2	chr7:84158290-84159506	A549	lung:	n/a	n/a
37	EP300	chr7:84158147-84159576	A549	lung:	n/a	chr7:84158392-84158406 chr7:84158703-84158717 chr7:84159530-84159538
38	RAD21	chr7:84159173-84159555	SK-N-SH_RA	brain:	n/a	n/a
39	RAD21	chr7:84159124-84159549	SK-N-SH_RA	brain:	n/a	n/a
40	NR2F2	chr7:84158482-84159453	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84158595..84159433-chr7:84240484..84241224,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235139	TF binding region
RPL7P30	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11766890	1.00[AFR][1000 genomes]
rs73192713	1.00[AFR][1000 genomes]
rs73192718	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv888634	chr7:84086502-84196258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv888635	chr7:84086502-84344258	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv888636	chr7:84117594-84334498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv607710	chr7:84137622-84168615	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv888637	chr7:84137622-84213008	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv464620	chr7:84141077-84289915	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv607711	chr7:84141077-84289915	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1031149	chr7:84144990-84404356	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv3380185	chr7:84151822-84159736	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	esv3361857	chr7:84152054-84159936	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	nsv888638	chr7:84158180-84334498	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv888639	chr7:84158180-84344258	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84157400-84160800	Enhancers	Hela-S3	cervix
2	chr7:84157600-84159600	Enhancers	Fetal Intestine Large	intestine
3	chr7:84157600-84162400	Enhancers	Fetal Intestine Small	intestine
4	chr7:84158000-84160000	Enhancers	NHEK	skin
5	chr7:84158000-84160800	Enhancers	NHDF-Ad	bronchial
6	chr7:84158200-84159600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:84158200-84161000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:84158400-84159600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:84158400-84159600	Enhancers	HSMM	muscle
10	chr7:84158400-84159600	Enhancers	HUVEC	blood vessel
11	chr7:84158400-84159600	Enhancers	NHLF	lung
12	chr7:84158400-84159600	Enhancers	Osteobl	bone
13	chr7:84158400-84160000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:84158400-84162600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:84158600-84160000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:84158600-84160600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:84158600-84161200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:84158800-84159600	Enhancers	Stomach Mucosa	stomach
19	chr7:84158800-84159600	Enhancers	HMEC	breast
20	chr7:84159000-84159600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:84159000-84159600	Enhancers	NH-A	brain
22	chr7:84159200-84160200	Enhancers	Rectal Smooth Muscle	rectum
23	chr7:84159200-84161000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:84159200-84161000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:84159400-84161200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:84159400-84161400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:84159400-84161400	Enhancers	A549	lung
28	chr7:84159400-84165000	Weak transcription	Colon Smooth Muscle	Colon

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