Variant report

Variant	rs72734682
Chromosome Location	chr5:36911289-36911290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:36908573..36910125-chr5:36910550..36913083,2	MCF-7	breast:
2	chr5:36903517..36905650-chr5:36910483..36913260,3	MCF-7	breast:
3	chr5:36910124..36911692-chr5:36912890..36915128,2	K562	blood:
4	chr5:36910368..36911914-chr5:36922337..36924698,2	MCF-7	breast:
5	chr5:36875178..36878850-chr5:36908740..36913582,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC1A3-1	chr5:36910492-36912362	l_2904_chr5:36907213-36912362_kidney

No data

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs55702678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55712022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55739939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272083	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56332781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732594	0.90[EUR][1000 genomes]
rs72732600	0.90[EUR][1000 genomes]
rs72732601	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734604	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734607	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72734671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734681	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72734685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72734702	0.81[EUR][1000 genomes]
rs72736704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736708	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736723	0.81[EUR][1000 genomes]
rs72736727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active 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 target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36895800-36918800	Weak transcription	Small Intestine	intestine
2	chr5:36895800-36928600	Weak transcription	HSMM	muscle
3	chr5:36899000-36926400	Weak transcription	Gastric	stomach
4	chr5:36902000-36911400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr5:36902600-36912800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:36902800-36912600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:36903800-36919200	Weak transcription	K562	blood
8	chr5:36904200-36914600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr5:36905000-36919400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:36905200-36914200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:36905200-36914200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:36905200-36914400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:36905200-36920000	Weak transcription	Primary B cells from cord blood	blood
14	chr5:36905200-36927800	Weak transcription	Psoas Muscle	Psoas
15	chr5:36906600-36915000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr5:36906800-36912600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:36906800-36916200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:36907400-36928600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:36907400-36938200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:36909000-36915400	Weak transcription	NHDF-Ad	bronchial
21	chr5:36909000-36915800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:36909200-36915600	Weak transcription	Fetal Heart	heart
23	chr5:36909200-36915800	Weak transcription	Stomach Mucosa	stomach
24	chr5:36909400-36912000	Weak transcription	GM12878-XiMat	blood
25	chr5:36909400-36920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:36909400-36921000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:36910000-36911400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:36910000-36911400	Enhancers	Colon Smooth Muscle	Colon
29	chr5:36910200-36911600	Enhancers	Primary T cells from cord blood	blood
30	chr5:36910200-36912000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:36910200-36913600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:36910200-36928000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:36910400-36911600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:36910400-36912200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:36910600-36913600	Weak transcription	Left Ventricle	heart
36	chr5:36910800-36911400	Enhancers	Brain Substantia Nigra	brain
37	chr5:36910800-36911600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:36911000-36911400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:36911000-36911400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr5:36911000-36912600	Enhancers	Ovary	ovary
41	chr5:36911000-36919600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:36911200-36911400	Enhancers	Duodenum Mucosa	Duodenum
43	chr5:36911200-36911400	Enhancers	Fetal Lung	lung
44	chr5:36911200-36911400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr5:36911200-36911600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:36911200-36911600	Enhancers	Brain Anterior Caudate	brain
47	chr5:36911200-36913800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:36911200-36928600	Weak transcription	A549	lung

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