Variant report

Variant	rs4777538
Chromosome Location	chr15:73074671-73074672
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:73074165-73074767	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:73073828-73077169	K562	blood:	n/a	n/a
3	POLR2A	chr15:73073416-73074788	GM12878	blood:	n/a	n/a
4	HCFC1	chr15:73074341-73077460	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:73074444-73074675	HepG2	liver:	n/a	n/a
6	ESRRA	chr15:73074606-73078362	GM12878	blood:	n/a	n/a
7	WRNIP1	chr15:73073323-73074740	GM12878	blood:	n/a	n/a
8	JUN	chr15:73073554-73077337	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:72978938..72981317-chr15:73074560..73077463,3	K562	blood:
2	chr15:73023517..73026830-chr15:73073635..73076108,3	MCF-7	breast:
3	chr15:73049186..73051770-chr15:73072949..73076067,3	K562	blood:
4	chr15:72978938..72981317-chr15:73074560..73077463,2	K562	blood:
5	chr15:72976932..72978751-chr15:73073825..73076141,2	MCF-7	breast:
6	chr15:73073926..73075951-chr2:64751420..64752931,2	MCF-7	breast:
7	chr15:73072574..73074689-chr15:73091514..73094026,2	K562	blood:
8	chr15:73014099..73017746-chr15:73074579..73076877,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BBS4-1	chr15:73074465-73076667	ENSG00000247829

No data

Variant related genes	Relation type
ADPGK-AS1	TF binding region
ENSG00000119844	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000159322	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11072387	0.97[ASN][1000 genomes]
rs12439375	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12440951	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12441084	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12592955	0.91[EUR][1000 genomes]
rs12594667	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12594844	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12594938	0.97[ASN][1000 genomes]
rs16957293	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2278543	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415166	0.88[ASN][1000 genomes]
rs28398258	0.97[ASN][1000 genomes]
rs28502551	0.93[EUR][1000 genomes]
rs3179616	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34337823	0.90[EUR][1000 genomes]
rs35136341	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35958407	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3759870	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4776611	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4776616	0.88[ASN][1000 genomes]
rs4777528	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4777529	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4777530	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777531	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4777533	0.96[ASN][1000 genomes]
rs4777537	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4777540	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4777543	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4777545	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56915357	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57621041	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58600393	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59049627	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59152128	0.93[EUR][1000 genomes]
rs60405894	0.90[EUR][1000 genomes]
rs60601886	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60674997	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61311866	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62017593	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62017598	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62017623	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7178409	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72662112	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737337	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7495022	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8032586	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:73060000-73075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:73060200-73075200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:73061400-73075000	Weak transcription	Fetal Kidney	kidney
5	chr15:73067000-73075000	Weak transcription	Esophagus	oesophagus
6	chr15:73067400-73074800	Weak transcription	Fetal Brain Female	brain
7	chr15:73067400-73074800	Weak transcription	HUVEC	blood vessel
8	chr15:73067400-73075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:73067400-73075000	Weak transcription	Aorta	Aorta
10	chr15:73067400-73075000	Weak transcription	Ovary	ovary
11	chr15:73069000-73075000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:73072000-73075000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:73072400-73074800	Weak transcription	HSMM	muscle
14	chr15:73072400-73075000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:73073000-73074800	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr15:73073000-73074800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr15:73073200-73075000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr15:73073200-73075200	Enhancers	Spleen	Spleen
19	chr15:73073400-73075000	Enhancers	Brain Angular Gyrus	brain
20	chr15:73073400-73075000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr15:73073600-73074800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr15:73073600-73074800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:73073600-73074800	Enhancers	Brain Anterior Caudate	brain
24	chr15:73073600-73074800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr15:73073600-73075000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:73073800-73074800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:73073800-73074800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:73073800-73075000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:73073800-73076800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr15:73074000-73074800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr15:73074000-73074800	Flanking Active TSS	Thymus	Thymus
32	chr15:73074000-73074800	Enhancers	NHDF-Ad	bronchial
33	chr15:73074000-73075000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr15:73074000-73075000	Enhancers	Fetal Heart	heart
35	chr15:73074000-73075000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr15:73074000-73075200	Enhancers	Small Intestine	intestine
37	chr15:73074000-73075200	Enhancers	Stomach Mucosa	stomach
38	chr15:73074000-73075400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr15:73074000-73075400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr15:73074000-73075400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr15:73074000-73075600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr15:73074200-73074800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:73074200-73074800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:73074200-73074800	Enhancers	Fetal Brain Male	brain
45	chr15:73074200-73074800	Genic enhancers	Fetal Muscle Leg	muscle
46	chr15:73074200-73074800	Genic enhancers	Fetal Stomach	stomach
47	chr15:73074200-73074800	Enhancers	Psoas Muscle	Psoas
48	chr15:73074200-73074800	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr15:73074200-73074800	Enhancers	Right Ventricle	heart
50	chr15:73074200-73074800	Enhancers	Skeletal Muscle Female	skeletal muscle

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