Variant report

Variant	rs73927791
Chromosome Location	chr2:47631498-47631499
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:47592763..47599978-chr2:47628456..47631890,7	K562	blood:
2	chr2:47630652..47632371-chr2:47633998..47636447,2	MCF-7	breast:
3	chr2:47350687..47353062-chr2:47631360..47633545,2	K562	blood:
4	chr2:47401987..47404848-chr2:47628320..47632624,5	MCF-7	breast:
5	chr2:47570416..47573787-chr2:47628581..47633320,5	MCF-7	breast:
6	chr2:47595432..47597958-chr2:47630032..47632167,2	K562	blood:
7	chr2:47571726..47575826-chr2:47629274..47632481,3	MCF-7	breast:
8	chr2:47595241..47598489-chr2:47628033..47632018,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234690	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000119888	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17036586	0.81[AFR][1000 genomes]
rs17036636	0.81[EUR][1000 genomes]
rs17039235	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17217849	0.86[AFR][1000 genomes]
rs17217961	0.86[AFR][1000 genomes]
rs17218293	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17218439	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17218550	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17224122	0.86[AFR][1000 genomes]
rs17224262	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17224794	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1800151	0.86[AFR][1000 genomes]
rs3923035	0.92[EUR][1000 genomes]
rs55815447	0.81[AFR][1000 genomes]
rs58930161	0.86[AFR][1000 genomes]
rs59280186	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61059389	0.83[AMR][1000 genomes]
rs6741393	0.81[EUR][1000 genomes]
rs6757620	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72882796	0.81[AFR][1000 genomes]
rs72882802	0.81[AFR][1000 genomes]
rs72884632	0.86[AFR][1000 genomes]
rs72884684	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72886304	0.86[AFR][1000 genomes]
rs72888234	0.81[EUR][1000 genomes]
rs72888253	0.81[EUR][1000 genomes]
rs73927793	0.83[AFR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers 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 miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47629200-47631600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:47629200-47632400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:47629400-47632200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:47629600-47631600	Active TSS	Left Ventricle	heart
5	chr2:47629600-47632000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:47629800-47631600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:47629800-47631600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:47629800-47631600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:47629800-47632000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:47629800-47632400	Active TSS	H1 Cell Line	embryonic stem cell
11	chr2:47630000-47631600	Active TSS	Brain Germinal Matrix	brain
12	chr2:47630000-47631600	Active TSS	HSMM	muscle
13	chr2:47630000-47632000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:47630600-47631600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr2:47630600-47631600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:47630600-47631800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr2:47630600-47631800	Flanking Active TSS	Thymus	Thymus
18	chr2:47630800-47631600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr2:47630800-47631600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr2:47630800-47631600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr2:47630800-47631600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr2:47630800-47631600	Flanking Active TSS	NHEK	skin
23	chr2:47630800-47631800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:47630800-47631800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:47630800-47631800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr2:47630800-47631800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:47630800-47631800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:47630800-47631800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:47630800-47631800	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr2:47630800-47631800	Flanking Active TSS	Pancreas	Pancrea
31	chr2:47630800-47631800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr2:47631000-47631600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:47631000-47631600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:47631000-47631600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:47631000-47631600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:47631000-47631600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr2:47631000-47631600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:47631000-47631600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:47631000-47631600	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr2:47631000-47631600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr2:47631000-47631600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr2:47631000-47631600	Flanking Active TSS	Fetal Heart	heart
43	chr2:47631000-47631600	Flanking Active TSS	Fetal Stomach	stomach
44	chr2:47631000-47631800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr2:47631000-47631800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr2:47631000-47631800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr2:47631000-47631800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr2:47631000-47631800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:47631000-47631800	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr2:47631000-47631800	Flanking Active TSS	Brain Cingulate Gyrus	brain

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