Variant report

Variant	rs4073381
Chromosome Location	chr5:178266268-178266269
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	RCOR1	chr5:178266002-178266694	K562	blood:	n/a	n/a
2	CTCF	chr5:178266192-178266721	HCT-116	colon:	n/a	chr5:178266544-178266562 chr5:178266546-178266559 chr5:178266547-178266557 chr5:178266545-178266561 chr5:178266539-178266560 chr5:178266550-178266559
3	RAD21	chr5:178266162-178266817	HCT-116	colon:	n/a	chr5:178266542-178266561 chr5:178266300-178266314
4	NR2F2	chr5:178266018-178266755	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:178266088-178266342	MCF-7	breast:	n/a	chr5:178266135-178266151
6	JUND	chr5:178265912-178266614	K562	blood:	n/a	n/a
7	RAD21	chr5:178266265-178266804	ECC-1	luminal epithelium:	n/a	chr5:178266542-178266561 chr5:178266300-178266314
8	RAD21	chr5:178266131-178266806	MCF-7	breast:	n/a	chr5:178266542-178266561 chr5:178266300-178266314
9	CTCF	chr5:178266085-178266366	MCF-7	breast:	n/a	chr5:178266135-178266151
10	CTCF	chr5:178266214-178266825	A549	lung:	n/a	chr5:178266544-178266562 chr5:178266546-178266559 chr5:178266547-178266557 chr5:178266545-178266561 chr5:178266539-178266560 chr5:178266550-178266559
11	NR2F2	chr5:178265879-178266668	MCF-7	breast:	n/a	n/a
12	HDAC2	chr5:178265989-178266734	MCF-7	breast:	n/a	n/a
13	GATA3	chr5:178265881-178266795	MCF-7	breast:	n/a	n/a
14	MAX	chr5:178266088-178266702	MCF-7	breast:	n/a	n/a
15	TCF12	chr5:178265980-178266934	MCF-7	breast:	n/a	n/a
16	RAD21	chr5:178266259-178266756	HepG2	liver:	n/a	chr5:178266542-178266561 chr5:178266300-178266314
17	RAD21	chr5:178266202-178266856	MCF-7	breast:	n/a	chr5:178266542-178266561 chr5:178266300-178266314
18	CTCF	chr5:178266042-178266367	MCF-7	breast:	n/a	chr5:178266135-178266151
19	CTCF	chr5:178266031-178266857	MCF-7	breast:	n/a	chr5:178266544-178266562 chr5:178266546-178266559 chr5:178266547-178266557 chr5:178266545-178266561 chr5:178266539-178266560 chr5:178266550-178266559 chr5:178266135-178266151
20	CTCF	chr5:178266073-178266330	MCF-7	breast:	n/a	chr5:178266135-178266151
21	GATA3	chr5:178266218-178266656	T-47D	breast:	n/a	n/a
22	CTCF	chr5:178266217-178266761	MCF-7	breast:	n/a	chr5:178266544-178266562 chr5:178266546-178266559 chr5:178266547-178266557 chr5:178266545-178266561 chr5:178266539-178266560 chr5:178266550-178266559
23	CTCF	chr5:178266039-178266750	K562	blood:	n/a	chr5:178266544-178266562 chr5:178266546-178266559 chr5:178266547-178266557 chr5:178266545-178266561 chr5:178266539-178266560 chr5:178266550-178266559 chr5:178266135-178266151
24	MYC	chr5:178266105-178266681	K562	blood:	n/a	n/a
25	GATA3	chr5:178265870-178266766	MCF-7	breast:	n/a	n/a
26	HDAC2	chr5:178266182-178266664	MCF-7	breast:	n/a	n/a
27	GATA3	chr5:178266144-178266648	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:178157367..178158168-chr5:178266123..178266937,3	MCF-7	breast:
2	chr5:177661196..177662135-chr5:178266134..178266915,2	MCF-7	breast:
3	chr5:178157414..178158390-chr5:178265741..178266981,10	MCF-7	breast:
4	chr5:178214124..178214763-chr5:178265905..178266637,2	MCF-7	breast:
5	chr5:178264186..178266313-chr5:178270488..178273068,2	MCF-7	breast:
6	chr5:178219826..178220832-chr5:178266011..178266987,10	MCF-7	breast:
7	chr5:177710796..177711682-chr5:178266072..178266614,2	K562	blood:
8	chr5:177706757..177707961-chr5:178266041..178266913,4	MCF-7	breast:
9	chr5:178219935..178220578-chr5:178266097..178266710,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253725	TF binding region
ENSG00000169131	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10062221	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068395	0.87[CEU][hapmap]
rs10479432	0.94[CEU][hapmap]
rs12654347	1.00[CHB][hapmap]
rs34841481	0.81[ASN][1000 genomes]
rs59650765	0.80[EUR][1000 genomes]
rs60425051	0.80[ASN][1000 genomes]
rs60476984	0.89[ASN][1000 genomes]
rs62393031	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7444300	1.00[CHB][hapmap]

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	nsv1031206	chr5:178149292-178283614	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv537973	chr5:178149292-178283614	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv968861	chr5:178251700-178275142	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178263600-178286400	Weak transcription	Right Atrium	heart
2	chr5:178265200-178266400	Enhancers	Placenta	Placenta
3	chr5:178266000-178266400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr5:178266000-178266400	Active TSS	K562	blood
5	chr5:178266000-178266600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:178266200-178266600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:178266200-178266600	Enhancers	Pancreas	Pancrea
8	chr5:178266200-178269800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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