Variant report

Variant	rs7523700
Chromosome Location	chr1:10447581-10447582
allele	C/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	EP300	chr1:10447338-10449101	A549	lung:	n/a	n/a
2	NR3C1	chr1:10447492-10448076	A549	lung:	n/a	chr1:10448002-10448020
3	SIX5	chr1:10447379-10448955	A549	lung:	n/a	chr1:10448072-10448081
4	TEAD4	chr1:10447533-10447982	A549	lung:	n/a	n/a
5	POLR2A	chr1:10447516-10447610	A549	lung:	n/a	n/a
6	EP300	chr1:10447300-10448991	A549	lung:	n/a	n/a
7	REST	chr1:10447347-10449071	A549	lung:	n/a	n/a
8	CEBPB	chr1:10447518-10448823	A549	lung:	n/a	chr1:10448206-10448219
9	POLR2A	chr1:10447510-10448556	SK-N-MC	brain:	n/a	n/a
10	RAD21	chr1:10447562-10447942	A549	lung:	n/a	n/a
11	MAX	chr1:10447072-10449043	A549	lung:	n/a	n/a
12	BCL3	chr1:10447442-10448785	A549	lung:	n/a	n/a
13	CEBPB	chr1:10447456-10448910	A549	lung:	n/a	chr1:10448206-10448219
14	GATA3	chr1:10447311-10448926	A549	lung:	n/a	n/a
15	SP1	chr1:10447356-10448907	A549	lung:	n/a	n/a
16	FOSL2	chr1:10447427-10448811	A549	lung:	n/a	chr1:10448264-10448276
17	ZBTB33	chr1:10447519-10447982	A549	lung:	n/a	n/a
18	NR3C1	chr1:10447505-10448868	A549	lung:	n/a	chr1:10448463-10448489 chr1:10448463-10448489 chr1:10448469-10448483 chr1:10448002-10448020 chr1:10448469-10448483 chr1:10448465-10448486 chr1:10448467-10448484
19	FOXA2	chr1:10447523-10448175	A549	lung:	n/a	n/a
20	POLR2A	chr1:10447516-10447596	A549	lung:	n/a	n/a
21	BCL3	chr1:10447376-10448884	A549	lung:	n/a	n/a
22	TEAD4	chr1:10447560-10448002	A549	lung:	n/a	n/a
23	NR3C1	chr1:10447529-10448054	A549	lung:	n/a	chr1:10448002-10448020
24	ETS1	chr1:10447498-10448009	A549	lung:	n/a	n/a
25	ATF3	chr1:10447483-10448765	A549	lung:	n/a	n/a
26	FOXA2	chr1:10447484-10448451	A549	lung:	n/a	n/a
27	REST	chr1:10447559-10448272	A549	lung:	n/a	n/a
28	CEBPB	chr1:10447525-10448041	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:10447573-10448473	SK-N-MC	brain:	n/a	n/a
30	TCF12	chr1:10447561-10448746	A549	lung:	n/a	n/a
31	NR3C1	chr1:10447523-10448064	A549	lung:	n/a	chr1:10448002-10448020
32	JUND	chr1:10447538-10447974	A549	lung:	n/a	n/a
33	TCF12	chr1:10447110-10449165	A549	lung:	n/a	n/a
34	SP1	chr1:10447095-10448986	A549	lung:	n/a	n/a
35	MAX	chr1:10447200-10448953	A549	lung:	n/a	n/a
36	FOSL2	chr1:10447571-10448389	A549	lung:	n/a	chr1:10448264-10448276
37	NR3C1	chr1:10447461-10448147	A549	lung:	n/a	chr1:10448002-10448020
38	POLR2A	chr1:10447563-10448163	MCF10A-Er-Src	breast:	n/a	n/a
39	USF1	chr1:10447413-10448424	A549	lung:	n/a	n/a
40	GATA3	chr1:10447522-10448034	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:10447111..10452516-chr1:10455817..10460024,9	K562	blood:
2	chr1:10446950..10451985-chr1:10457311..10462205,6	K562	blood:
3	chr1:10446399..10450088-chr1:10457513..10461303,7	MCF-7	breast:
4	chr1:10447080..10448885-chr1:10454434..10456655,2	MCF-7	breast:
5	chr1:10446221..10450110-chr1:10457451..10462205,13	MCF-7	breast:

Variant related genes	Relation type
RN7SL721P	TF binding region
ENSG00000142657	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11803480	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17034762	0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7355148	0.85[AMR][1000 genomes]
rs7513710	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10425800-10447800	Weak transcription	Psoas Muscle	Psoas
2	chr1:10435400-10447800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:10435400-10448000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:10435600-10447600	Weak transcription	Thymus	Thymus
5	chr1:10435600-10448800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:10435600-10448800	Weak transcription	Gastric	stomach
7	chr1:10435800-10448000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:10436800-10448400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:10437000-10447800	Weak transcription	Left Ventricle	heart
10	chr1:10437000-10448000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:10437400-10447600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:10437600-10447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:10438600-10458200	Weak transcription	Right Atrium	heart
14	chr1:10438800-10447600	Weak transcription	Fetal Kidney	kidney
15	chr1:10438800-10448000	Weak transcription	Spleen	Spleen
16	chr1:10439000-10447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:10439000-10448200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:10439200-10447600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:10439600-10447600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:10439600-10447800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:10439600-10448000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:10439600-10458200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:10439800-10447600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:10440000-10447600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:10440000-10447600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:10440000-10447800	Weak transcription	Colonic Mucosa	Colon
27	chr1:10440000-10451800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:10440000-10458400	Weak transcription	Lung	lung
29	chr1:10440400-10447800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:10441600-10447600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:10441800-10447600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:10441800-10447600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:10441800-10447600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:10441800-10447600	Weak transcription	NH-A	brain
35	chr1:10441800-10447600	Weak transcription	NHLF	lung
36	chr1:10442000-10447600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:10443400-10447600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:10443800-10447600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:10444800-10447600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:10444800-10448800	Weak transcription	Pancreas	Pancrea
41	chr1:10444800-10458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:10445200-10448200	Enhancers	HepG2	liver
43	chr1:10445600-10454000	Weak transcription	Fetal Brain Female	brain
44	chr1:10446000-10447600	Weak transcription	Brain Anterior Caudate	brain
45	chr1:10446000-10448600	Weak transcription	Brain Germinal Matrix	brain
46	chr1:10446200-10447600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:10446400-10447600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:10446400-10447600	Enhancers	Hela-S3	cervix
49	chr1:10446400-10448400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:10446400-10449600	Enhancers	Placenta	Placenta

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