Variant report

Variant	rs1996724
Chromosome Location	chr3:112132202-112132203
allele	C/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	MYC	chr3:112132198-112132322	MCF-7	breast:	n/a	n/a
2	POLR2A	chr3:112132178-112132295	MCF-7	breast:	n/a	n/a
3	CTCF	chr3:112132199-112132303	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000243081	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1386897	1.00[ASN][1000 genomes]
rs1586508	1.00[ASN][1000 genomes]
rs1872985	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1872987	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2029318	1.00[ASN][1000 genomes]
rs2087259	1.00[ASN][1000 genomes]
rs2129856	1.00[ASN][1000 genomes]
rs2244035	1.00[ASN][1000 genomes]
rs2263365	1.00[ASN][1000 genomes]
rs2633541	1.00[ASN][1000 genomes]
rs2633551	0.97[EUR][1000 genomes]
rs2633554	1.00[ASN][1000 genomes]
rs2633567	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2633570	1.00[ASN][1000 genomes]
rs2633591	1.00[ASN][1000 genomes]
rs2633595	1.00[ASN][1000 genomes]
rs2633601	1.00[ASN][1000 genomes]
rs2633606	1.00[ASN][1000 genomes]
rs2633607	1.00[ASN][1000 genomes]
rs2633608	1.00[ASN][1000 genomes]
rs2683890	1.00[ASN][1000 genomes]
rs2683896	1.00[ASN][1000 genomes]
rs2683897	1.00[ASN][1000 genomes]
rs2683898	1.00[ASN][1000 genomes]
rs2683901	1.00[ASN][1000 genomes]
rs2683902	1.00[ASN][1000 genomes]
rs2683904	1.00[ASN][1000 genomes]
rs2931761	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2971206	1.00[ASN][1000 genomes]
rs6438073	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6799765	1.00[ASN][1000 genomes]
rs72952469	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002567	chr3:112088498-112144063	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2830128	chr3:112090292-112144026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv997659	chr3:112099148-112135687	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112126200-112134000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:112126200-112134400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:112126200-112135200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:112126400-112134200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:112126600-112135200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:112126600-112135400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:112126800-112135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:112126800-112136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:112128800-112132600	Weak transcription	Fetal Intestine Large	intestine
10	chr3:112130800-112136400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:112130800-112136400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:112130800-112137200	Weak transcription	Right Atrium	heart
13	chr3:112130800-112137600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:112131400-112132600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:112131600-112132600	Enhancers	Primary B cells from cord blood	blood
16	chr3:112131600-112132800	Enhancers	Primary B cells from peripheral blood	blood
17	chr3:112132200-112132400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr3:112132200-112132400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr3:112132200-112132600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:112132200-112132800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:112132200-112132800	Enhancers	Placenta	Placenta
22	chr3:112132200-112133000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr3:112132200-112133200	Enhancers	Duodenum Mucosa	Duodenum

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