Variant report

Variant	rs1369225
Chromosome Location	chr8:69535087-69535088
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	ESR1	chr8:69534422-69535497	T-47D	breast:	n/a	n/a
2	TEAD4	chr8:69534703-69535165	MCF-7	breast:	n/a	n/a
3	ZNF217	chr8:69534389-69535357	MCF-7	breast:	n/a	n/a
4	GATA3	chr8:69534544-69535554	T-47D	breast:	n/a	n/a
5	ESR1	chr8:69534449-69535539	T-47D	breast:	n/a	n/a
6	RAD21	chr8:69534572-69535187	MCF-7	breast:	n/a	n/a
7	CEBPB	chr8:69534536-69535195	MCF-7	breast:	n/a	n/a
8	RAD21	chr8:69534582-69535386	MCF-7	breast:	n/a	n/a
9	JUND	chr8:69534547-69535374	T-47D	breast:	n/a	n/a
10	SIN3AK20	chr8:69534081-69535716	MCF-7	breast:	n/a	n/a
11	GATA3	chr8:69534138-69535548	MCF-7	breast:	n/a	n/a
12	EP300	chr8:69534623-69535087	T-47D	breast:	n/a	chr8:69534691-69534705
13	EP300	chr8:69534540-69535493	T-47D	breast:	n/a	chr8:69535168-69535182 chr8:69534691-69534705
14	GATA3	chr8:69534459-69535262	SK-N-SH	brain:	n/a	n/a
15	FOXA1	chr8:69534619-69535150	T-47D	breast:	n/a	n/a
16	SIN3AK20	chr8:69534446-69535412	MCF-7	breast:	n/a	n/a
17	ESR1	chr8:69534680-69535482	T-47D	breast:	n/a	n/a
18	GATA3	chr8:69534624-69535166	A549	lung:	n/a	n/a
19	ESR1	chr8:69534690-69535515	T-47D	breast:	n/a	n/a
20	GATA3	chr8:69534443-69535726	MCF-7	breast:	n/a	n/a
21	NR2F2	chr8:69534462-69535284	MCF-7	breast:	n/a	n/a
22	HDAC2	chr8:69534679-69535288	MCF-7	breast:	n/a	chr8:69534688-69534702 chr8:69534691-69534705 chr8:69534686-69534700 chr8:69534689-69534703 chr8:69534687-69534701 chr8:69534690-69534704
23	NR2F2	chr8:69534356-69535198	MCF-7	breast:	n/a	n/a
24	TCF7L2	chr8:69534536-69535455	MCF-7	breast:	n/a	chr8:69534932-69534946
25	GATA3	chr8:69534558-69535623	T-47D	breast:	n/a	n/a
26	FOXM1	chr8:69534499-69535380	MCF-7	breast:	n/a	n/a
27	GATA3	chr8:69534148-69535605	MCF-7	breast:	n/a	n/a
28	GATA3	chr8:69534599-69535216	MCF-7	breast:	n/a	n/a
29	ESR1	chr8:69534459-69535487	T-47D	breast:	n/a	n/a
30	TEAD4	chr8:69534710-69535237	MCF-7	breast:	n/a	n/a
31	JUND	chr8:69534568-69535369	T-47D	breast:	n/a	n/a
32	ESR1	chr8:69534461-69535526	T-47D	breast:	n/a	n/a
33	EP300	chr8:69534335-69535230	MCF-7	breast:	n/a	chr8:69535168-69535182 chr8:69534691-69534705
34	TCF12	chr8:69534467-69535271	MCF-7	breast:	n/a	n/a
35	GATA3	chr8:69534540-69535236	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:69534697..69535499-chr8:69765415..69766189,3	MCF-7	breast:
2	chr8:69534052..69536698-chr8:70069393..70070949,2	MCF-7	breast:
3	chr8:69534376..69536332-chr8:69649057..69650937,3	MCF-7	breast:
4	chr8:69533271..69537103-chr8:69641120..69648413,10	MCF-7	breast:
5	chr19:7264702..7266418-chr8:69534338..69536805,2	MCF-7	breast:
6	chr8:69533114..69536525-chr8:69763843..69767618,4	MCF-7	breast:

Variant related genes	Relation type
C8orf34	TF binding region
ENSG00000254337	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10111308	0.85[ASN][1000 genomes]
rs11780358	0.83[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1434928	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1434929	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1583423	0.89[ASN][1000 genomes]
rs2380483	0.88[CEU][hapmap]
rs4313142	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4366070	0.96[ASN][1000 genomes]
rs4439109	0.85[CEU][hapmap]
rs4993630	0.86[ASN][1000 genomes]
rs920015	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890984	chr8:69482825-69556111	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv520587	chr8:69530428-69535622	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv890985	chr8:69532253-69586034	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1369225	CRH	cis	cerebellum	SCAN
rs1369225	LRRC67	cis	parietal	SCAN
rs1369225	NCOA2	cis	parietal	SCAN
rs1369225	C8orf44	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69532800-69544800	Weak transcription	Aorta	Aorta
2	chr8:69534200-69535400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:69534200-69535400	Enhancers	NHDF-Ad	bronchial
4	chr8:69534200-69536000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:69534400-69535400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:69535000-69537000	Weak transcription	NHLF	lung

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