Variant report

Variant	rs2410805
Chromosome Location	chr3:194898691-194898692
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr3:194898616-194899431	K562	blood:	n/a	n/a
2	TEAD4	chr3:194898648-194899174	K562	blood:	n/a	n/a
3	GATA2	chr3:194898674-194899174	K562	blood:	n/a	n/a
4	GATA1	chr3:194898568-194899655	PBDE	blood:	n/a	n/a
5	TRIM28	chr3:194898655-194899211	K562	blood:	n/a	n/a
6	TBL1XR1	chr3:194898690-194899150	K562	blood:	n/a	n/a
7	GATA1	chr3:194898593-194899459	K562	blood:	n/a	n/a
8	TAL1	chr3:194898614-194899372	K562	blood:	n/a	n/a
9	NR2F2	chr3:194898683-194899256	K562	blood:	n/a	n/a
10	CBX3	chr3:194898661-194899180	K562	blood:	n/a	n/a
11	TEAD4	chr3:194898685-194899089	K562	blood:	n/a	n/a
12	STAT5A	chr3:194898681-194899149	K562	blood:	n/a	n/a
13	EP300	chr3:194898636-194899249	K562	blood:	n/a	n/a
14	ARID3A	chr3:194898678-194899055	K562	blood:	n/a	n/a
15	ZNF384	chr3:194898179-194899558	K562	blood:	n/a	n/a
16	EP300	chr3:194898458-194899675	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:194889145..194893112-chr3:194897042..194900780,5	K562	blood:
2	chr3:194898020..194901204-chr3:194901654..194905112,7	K562	blood:
3	chr3:194893170..194895708-chr3:194897276..194900351,5	K562	blood:
4	chr3:194897295..194902438-chr3:194905804..194908922,5	K562	blood:
5	chr3:194897295..194902185-chr3:194905804..194909141,6	K562	blood:
6	chr3:194897544..194900790-chr3:194903645..194906341,4	MCF-7	breast:
7	chr3:194873057..194876086-chr3:194895720..194899560,4	K562	blood:
8	chr3:194852689..194855656-chr3:194896440..194899044,2	K562	blood:

No data

Variant related genes	Relation type
XXYLT1	TF binding region
ENSG00000265333	Chromatin interaction
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11925335	0.89[EUR][1000 genomes]
rs12490970	1.00[AFR][1000 genomes]
rs12496868	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12634183	1.00[AFR][1000 genomes]
rs1874102	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1961324	0.89[EUR][1000 genomes]
rs3796160	0.89[EUR][1000 genomes]
rs56283237	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59190596	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6810043	0.89[EUR][1000 genomes]
rs721007	0.89[EUR][1000 genomes]
rs9825199	0.89[EUR][1000 genomes]
rs9826142	0.87[EUR][1000 genomes]
rs9870185	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9870684	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9879463	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9883144	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
10	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
14	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
15	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194881400-194906000	Weak transcription	Hela-S3	cervix
2	chr3:194881600-194903000	Weak transcription	HSMM	muscle
3	chr3:194882000-194904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:194883400-194899200	Weak transcription	Brain Angular Gyrus	brain
5	chr3:194884200-194902400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:194884400-194901000	Weak transcription	Primary T cells from cord blood	blood
7	chr3:194884800-194908800	Weak transcription	Thymus	Thymus
8	chr3:194885200-194902400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:194885400-194906600	Weak transcription	Gastric	stomach
10	chr3:194885600-194900600	Weak transcription	Ovary	ovary
11	chr3:194886400-194900400	Weak transcription	Primary B cells from cord blood	blood
12	chr3:194889800-194900200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:194890000-194902800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:194892000-194899000	Weak transcription	Brain Anterior Caudate	brain
15	chr3:194892000-194899200	Weak transcription	Esophagus	oesophagus
16	chr3:194892200-194899400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:194892200-194902200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:194892400-194907400	Weak transcription	HSMMtube	muscle
19	chr3:194892600-194906200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr3:194893200-194900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:194893200-194900800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:194893400-194898800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:194893400-194898800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:194893400-194899000	Weak transcription	Psoas Muscle	Psoas
25	chr3:194893400-194899400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:194893400-194902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:194893600-194898800	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:194893600-194899200	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:194893600-194899400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:194893600-194900600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:194893600-194902200	Weak transcription	NHEK	skin
32	chr3:194893600-194903000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:194893800-194899000	Weak transcription	Right Atrium	heart
34	chr3:194893800-194900200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:194893800-194900800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:194893800-194902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:194893800-194903200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:194894000-194899000	Weak transcription	Fetal Brain Male	brain
39	chr3:194894000-194899600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:194894000-194903200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr3:194894200-194899400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:194894200-194902400	Weak transcription	Fetal Brain Female	brain
43	chr3:194894400-194899000	Weak transcription	Placenta	Placenta
44	chr3:194894600-194898800	Weak transcription	Left Ventricle	heart
45	chr3:194894600-194899000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:194894600-194899000	Weak transcription	Lung	lung
47	chr3:194894600-194899000	Weak transcription	Right Ventricle	heart
48	chr3:194894600-194899200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr3:194894600-194899200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:194894800-194898800	Weak transcription	Brain Substantia Nigra	brain

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