Variant report

Variant	rs3761790
Chromosome Location	chr6:24493096-24493097
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr6:24492765-24493147	HepG2	liver:	n/a	n/a
2	CTCF	chr6:24492742-24493184	MCF-7	breast:	n/a	n/a
3	CTCF	chr6:24492980-24493130	HFF-Myc	foreskin:	n/a	n/a
4	FOXA2	chr6:24492807-24493098	HepG2	liver:	n/a	n/a
5	CTCF	chr6:24492757-24493121	K562	blood:	n/a	n/a
6	FOXA1	chr6:24492777-24493169	HepG2	liver:	n/a	n/a
7	RAD21	chr6:24492712-24493148	HepG2	liver:	n/a	n/a
8	CTCF	chr6:24492597-24493314	A549	lung:	n/a	n/a
9	CTCF	chr6:24492758-24493219	K562	blood:	n/a	n/a
10	CTCF	chr6:24492734-24493122	GM12878	blood:	n/a	n/a
11	CTCF	chr6:24492776-24493178	MCF-7	breast:	n/a	n/a
12	SMC3	chr6:24492763-24493097	HepG2	liver:	n/a	n/a
13	CTCF	chr6:24492980-24493130	AG04450	lung:	n/a	n/a
14	RAD21	chr6:24492743-24493218	MCF-7	breast:	n/a	n/a
15	RAD21	chr6:24492771-24493162	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:24493014..24496474-chr6:24718971..24722650,4	K562	blood:
2	chr6:24492475..24493366-chr6:24524815..24525673,2	MCF-7	breast:
3	chr6:24492199..24495699-chr6:24718792..24721987,5	K562	blood:
4	chr6:24487824..24490266-chr6:24492770..24497111,3	MCF-7	breast:
5	chr6:24402909..24405943-chr6:24492830..24496087,3	K562	blood:
6	chr6:24492633..24493385-chr6:24520875..24521776,3	MCF-7	breast:
7	chr6:24491848..24494534-chr6:24497211..24499675,3	MCF-7	breast:
8	chr6:24487096..24491354-chr6:24491448..24495730,8	K562	blood:

No data

Variant related genes	Relation type
GPLD1	TF binding region
ALDH5A1	TF binding region
ENSG00000112293	Chromatin interaction
ENSG00000124532	Chromatin interaction
ENSG00000112308	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10498720	1.00[CEU][hapmap]
rs12660319	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs12661981	1.00[CEU][hapmap]
rs12665371	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16889286	1.00[CEU][hapmap]
rs16889393	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1772254	1.00[CEU][hapmap]
rs2235501	0.94[ASN][1000 genomes]
rs2235502	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2295651	1.00[CEU][hapmap]
rs2744591	0.85[ASN][1000 genomes]
rs2817203	0.96[ASN][1000 genomes]
rs3765310	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs4646831	0.93[ASN][1000 genomes]
rs4646832	1.00[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	esv2763542	chr6:24445131-24520637	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv519552	chr6:24451256-24524704	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv883480	chr6:24481299-24507519	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv34020	chr6:24481299-24606036	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24429000-24494200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:24458800-24494000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:24470600-24494600	Weak transcription	Left Ventricle	heart
4	chr6:24473000-24494600	Weak transcription	Ovary	ovary
5	chr6:24480400-24493600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:24483800-24494000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:24485400-24494000	Weak transcription	Brain Angular Gyrus	brain
8	chr6:24489800-24494600	Weak transcription	Right Atrium	heart
9	chr6:24490400-24494400	Weak transcription	Right Ventricle	heart
10	chr6:24490400-24494600	Weak transcription	Fetal Intestine Small	intestine
11	chr6:24490600-24493400	Weak transcription	Adipose Nuclei	Adipose
12	chr6:24490600-24493600	Weak transcription	HepG2	liver
13	chr6:24490600-24494400	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:24490600-24494400	Weak transcription	Hela-S3	cervix
15	chr6:24490800-24493800	Weak transcription	Brain Anterior Caudate	brain
16	chr6:24490800-24494200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:24491600-24494000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:24492000-24494400	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:24492000-24494400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:24492000-24494600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:24492200-24493200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:24492200-24493800	Weak transcription	Liver	Liver
23	chr6:24492800-24493200	Enhancers	K562	blood
24	chr6:24492800-24493800	Enhancers	Dnd41	blood
25	chr6:24492800-24494400	Enhancers	Fetal Thymus	thymus
26	chr6:24492800-24494400	Enhancers	Thymus	Thymus
27	chr6:24493000-24493200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:24493000-24493600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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