Variant report

Variant	rs6415849
Chromosome Location	chr9:101554218-101554219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:101554200-101554350	HCFaa	heart:	n/a	n/a
2	MAX	chr9:101553858-101554283	K562	blood:	n/a	n/a
3	ESR1	chr9:101553929-101554402	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr9:101553278-101554410	ECC-1	luminal epithelium:	n/a	n/a
5	TEAD4	chr9:101553189-101554296	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr9:101553138-101554508	IMR90	lung:	n/a	n/a
7	NR2F2	chr9:101553405-101554249	K562	blood:	n/a	n/a
8	ESR1	chr9:101553943-101554393	ECC-1	luminal epithelium:	n/a	n/a
9	E2F6	chr9:101554018-101554231	K562	blood:	n/a	n/a
10	POLR2A	chr9:101553395-101554656	K562	blood:	n/a	n/a
11	CTCF	chr9:101554180-101554330	GM12864	blood:	n/a	n/a
12	CTCF	chr9:101554120-101554270	HPF	lung:	n/a	chr9:101554179-101554192
13	MAX	chr9:101553305-101554382	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr9:101553286-101554404	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr9:101553115-101554271	ECC-1	luminal epithelium:	n/a	chr9:101553851-101553879
16	ESR1	chr9:101554024-101554393	ECC-1	luminal epithelium:	n/a	n/a
17	NFIC	chr9:101553193-101554343	ECC-1	luminal epithelium:	n/a	chr9:101553851-101553879
18	CTBP2	chr9:101553476-101554255	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr9:101554120-101554270	RPTEC	kidney:	n/a	chr9:101554179-101554192
20	CTCF	chr9:101554120-101554270	GM12872	blood:	n/a	chr9:101554179-101554192
21	MAX	chr9:101553898-101554433	ECC-1	luminal epithelium:	n/a	n/a
22	TCF12	chr9:101553232-101554446	ECC-1	luminal epithelium:	n/a	n/a
23	CBX3	chr9:101553216-101554277	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101552233..101554875-chr9:101569362..101571456,2	K562	blood:
2	chr9:101535383..101538083-chr9:101553407..101556464,3	MCF-7	breast:
3	chr9:100964784..100967101-chr9:101553869..101555931,2	K562	blood:
4	chr9:101550194..101555244-chr9:101566657..101571786,8	MCF-7	breast:
5	chr9:101553177..101554798-chr9:101692921..101694509,2	K562	blood:

No data

Variant related genes	Relation type
ANKS6	TF binding region
ENSG00000119514	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10119228	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10125255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739704	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10987843	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1555520	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180038	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs180039	0.91[ASN][1000 genomes]
rs182877	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2058881	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2295922	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337564	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337565	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337566	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337567	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337568	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337570	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs337571	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs337580	0.91[ASN][1000 genomes]
rs337583	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs337585	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337586	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337587	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337588	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs337589	0.91[ASN][1000 genomes]
rs337590	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs371521	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4133240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4133831	0.87[EUR][1000 genomes]
rs429562	0.87[EUR][1000 genomes]
rs439347	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs453409	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4742740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4742742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4743277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743279	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4743280	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743283	0.82[EUR][1000 genomes]
rs48418	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs507318	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6415847	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs692824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7029599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7039118	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs754222	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7846846	0.91[ASN][1000 genomes]
rs7861840	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7867234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7867317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9409306	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101508600-101557400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr9:101518800-101557200	Weak transcription	Psoas Muscle	Psoas
3	chr9:101521200-101557600	Weak transcription	Fetal Brain Male	brain
4	chr9:101530400-101557800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:101534000-101557600	Weak transcription	Right Atrium	heart
6	chr9:101535800-101557400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr9:101536000-101557600	Weak transcription	Primary B cells from cord blood	blood
8	chr9:101536600-101557600	Weak transcription	Brain Germinal Matrix	brain
9	chr9:101537000-101557400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:101544200-101557600	Weak transcription	Colonic Mucosa	Colon
11	chr9:101544800-101557600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr9:101545200-101557200	Weak transcription	Liver	Liver
13	chr9:101546200-101557600	Weak transcription	Left Ventricle	heart
14	chr9:101546400-101557200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr9:101547000-101557000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:101550600-101557000	Weak transcription	Dnd41	blood
17	chr9:101551000-101557400	Weak transcription	Fetal Brain Female	brain
18	chr9:101552400-101556800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:101552400-101557000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr9:101552400-101557400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:101552600-101554400	Enhancers	Pancreas	Pancrea
22	chr9:101552600-101554600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:101552600-101554600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:101552600-101557000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr9:101552600-101557000	Weak transcription	Esophagus	oesophagus
26	chr9:101552600-101557200	Weak transcription	Right Ventricle	heart
27	chr9:101552600-101557600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:101552600-101557800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:101552800-101554600	Enhancers	Lung	lung
30	chr9:101552800-101554600	Enhancers	Ovary	ovary
31	chr9:101552800-101554800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:101552800-101554800	Genic enhancers	NHEK	skin
33	chr9:101552800-101555000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:101552800-101555000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:101552800-101555400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:101552800-101555800	Enhancers	Stomach Mucosa	stomach
37	chr9:101552800-101556600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:101552800-101557200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:101552800-101557200	Weak transcription	Spleen	Spleen
40	chr9:101552800-101557600	Weak transcription	Aorta	Aorta
41	chr9:101553000-101554400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:101553000-101554400	Enhancers	Fetal Heart	heart
43	chr9:101553000-101554600	Enhancers	Brain Angular Gyrus	brain
44	chr9:101553000-101554600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:101553000-101554600	Enhancers	Fetal Muscle Trunk	muscle
46	chr9:101553000-101554600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr9:101553000-101555200	Enhancers	Fetal Intestine Large	intestine
48	chr9:101553000-101555400	Enhancers	Fetal Muscle Leg	muscle
49	chr9:101553200-101554400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr9:101553200-101554600	Enhancers	Placenta	Placenta

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