Variant report

Variant	rs7512165
Chromosome Location	chr1:224712907-224712908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:224712076-224712993	SK-N-SH	brain:	n/a	n/a
2	JUND	chr1:224712271-224712984	SK-N-SH	brain:	n/a	n/a
3	JUND	chr1:224712198-224712920	SK-N-SH	brain:	n/a	n/a
4	JUND	chr1:224712247-224712923	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr1:224712135-224712971	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr1:224712198-224712949	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224690598..224692730-chr1:224711571..224713777,2	K562	blood:
2	chr1:224688210..224692730-chr1:224708810..224713777,4	K562	blood:
3	chr1:224710212..224713081-chr1:224713439..224718484,6	K562	blood:
4	chr1:224711921..224714079-chr1:224715573..224717114,2	MCF-7	breast:

No data

Variant related genes	Relation type
CNIH3	TF binding region
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10495221	1.00[EUR][1000 genomes]
rs11801211	1.00[EUR][1000 genomes]
rs11802182	1.00[EUR][1000 genomes]
rs11807149	1.00[EUR][1000 genomes]
rs11809688	1.00[EUR][1000 genomes]
rs11809710	1.00[EUR][1000 genomes]
rs11810160	1.00[EUR][1000 genomes]
rs11811935	1.00[EUR][1000 genomes]
rs11812007	1.00[EUR][1000 genomes]
rs13374584	1.00[EUR][1000 genomes]
rs13376387	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1499284	1.00[EUR][1000 genomes]
rs16846190	1.00[EUR][1000 genomes]
rs16846212	1.00[EUR][1000 genomes]
rs16846293	1.00[EUR][1000 genomes]
rs16846494	1.00[EUR][1000 genomes]
rs16847675	1.00[EUR][1000 genomes]
rs16847784	1.00[EUR][1000 genomes]
rs16847858	1.00[EUR][1000 genomes]
rs16847870	1.00[EUR][1000 genomes]
rs16847871	1.00[EUR][1000 genomes]
rs16849419	1.00[EUR][1000 genomes]
rs16849547	1.00[EUR][1000 genomes]
rs1857042	1.00[EUR][1000 genomes]
rs2068945	1.00[EUR][1000 genomes]
rs2794805	1.00[EUR][1000 genomes]
rs4653586	1.00[EUR][1000 genomes]
rs55712053	1.00[EUR][1000 genomes]
rs57469223	1.00[EUR][1000 genomes]
rs57719044	1.00[EUR][1000 genomes]
rs57967341	1.00[EUR][1000 genomes]
rs58304668	1.00[EUR][1000 genomes]
rs58649883	1.00[EUR][1000 genomes]
rs58788859	1.00[EUR][1000 genomes]
rs58814229	1.00[EUR][1000 genomes]
rs59034185	1.00[EUR][1000 genomes]
rs59577766	1.00[EUR][1000 genomes]
rs59710928	1.00[EUR][1000 genomes]
rs60349703	1.00[EUR][1000 genomes]
rs60627429	1.00[EUR][1000 genomes]
rs60715845	1.00[EUR][1000 genomes]
rs60831135	1.00[EUR][1000 genomes]
rs61000820	1.00[EUR][1000 genomes]
rs61155217	1.00[EUR][1000 genomes]
rs61278437	1.00[EUR][1000 genomes]
rs6658918	1.00[EUR][1000 genomes]
rs6659109	1.00[EUR][1000 genomes]
rs6674133	1.00[EUR][1000 genomes]
rs6681611	1.00[EUR][1000 genomes]
rs6687424	1.00[EUR][1000 genomes]
rs6691181	1.00[EUR][1000 genomes]
rs6702649	1.00[EUR][1000 genomes]
rs6702972	1.00[EUR][1000 genomes]
rs73121865	1.00[EUR][1000 genomes]
rs73123788	1.00[EUR][1000 genomes]
rs73123791	1.00[EUR][1000 genomes]
rs73125526	1.00[EUR][1000 genomes]
rs73125529	1.00[EUR][1000 genomes]
rs73133345	1.00[EUR][1000 genomes]
rs74146264	1.00[EUR][1000 genomes]
rs74146372	1.00[EUR][1000 genomes]
rs74146374	1.00[EUR][1000 genomes]
rs74146377	1.00[EUR][1000 genomes]
rs74146381	1.00[EUR][1000 genomes]
rs74146382	1.00[EUR][1000 genomes]
rs74146383	1.00[EUR][1000 genomes]
rs74146384	1.00[EUR][1000 genomes]
rs74146386	1.00[EUR][1000 genomes]
rs74146389	1.00[EUR][1000 genomes]
rs9661679	1.00[EUR][1000 genomes]
rs9661938	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 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	chr1:224694200-224717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:224696400-224716600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:224701800-224716600	Weak transcription	Ovary	ovary
5	chr1:224702000-224716600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:224702200-224716600	Weak transcription	Dnd41	blood
7	chr1:224705200-224713600	Weak transcription	Fetal Brain Male	brain
8	chr1:224709000-224714200	Enhancers	NHDF-Ad	bronchial
9	chr1:224709200-224713400	Enhancers	HMEC	breast
10	chr1:224710400-224713200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:224710400-224713800	Enhancers	NH-A	brain
12	chr1:224710600-224716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:224710800-224713000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:224711200-224714000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:224711200-224720400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:224711400-224713800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:224711800-224713800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:224711800-224713800	Enhancers	Osteobl	bone
19	chr1:224711800-224716600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:224712000-224713000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:224712000-224713200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:224712000-224713600	Enhancers	HSMM	muscle
23	chr1:224712000-224713600	Enhancers	NHEK	skin
24	chr1:224712000-224730800	Weak transcription	Spleen	Spleen
25	chr1:224712200-224713200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:224712200-224713200	Enhancers	HSMMtube	muscle
27	chr1:224712200-224713400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:224712200-224713800	Enhancers	NHLF	lung
29	chr1:224712800-224713000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:224712800-224716600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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