Variant report

Variant	rs7712826
Chromosome Location	chr5:118420414-118420415
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118405385..118408063-chr5:118418201..118420659,2	K562	blood:

Variant related genes	Relation type
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2197797	1.00[EUR][1000 genomes]
rs56777416	1.00[EUR][1000 genomes]
rs58506278	1.00[EUR][1000 genomes]
rs59560401	1.00[EUR][1000 genomes]
rs60943459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881087	1.00[EUR][1000 genomes]
rs73240756	1.00[EUR][1000 genomes]
rs73240769	1.00[EUR][1000 genomes]
rs73240789	1.00[EUR][1000 genomes]
rs73240798	1.00[EUR][1000 genomes]
rs73240800	1.00[EUR][1000 genomes]
rs73242924	1.00[EUR][1000 genomes]
rs73242936	1.00[EUR][1000 genomes]
rs73242938	1.00[EUR][1000 genomes]
rs73242944	1.00[EUR][1000 genomes]
rs73242969	1.00[EUR][1000 genomes]
rs73242972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242977	1.00[AMR][1000 genomes]
rs73242991	1.00[EUR][1000 genomes]
rs73244806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73244821	1.00[EUR][1000 genomes]
rs73247063	1.00[AMR][1000 genomes];1.00[EUR][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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3511406	chr5:118409810-118459495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3511407	chr5:118409863-118459482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118407600-118423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:118407800-118421600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:118407800-118456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118408400-118451800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:118409000-118424000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:118409000-118435000	Weak transcription	Lung	lung
7	chr5:118409000-118471200	Weak transcription	Gastric	stomach
8	chr5:118409200-118424000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:118409400-118421000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:118409400-118435000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:118409800-118423200	Weak transcription	Fetal Intestine Large	intestine
12	chr5:118410800-118421200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:118411200-118435000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:118412000-118435000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:118412200-118432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:118412400-118424000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr5:118412400-118435000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:118414000-118423800	Weak transcription	Liver	Liver
20	chr5:118414000-118425800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:118414400-118472200	Weak transcription	Pancreas	Pancrea
22	chr5:118415000-118421400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:118415000-118426800	Weak transcription	Fetal Lung	lung
24	chr5:118415000-118435000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:118415200-118420800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:118415200-118423400	Weak transcription	Small Intestine	intestine
27	chr5:118415200-118435000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:118415200-118435200	Weak transcription	HepG2	liver
29	chr5:118415200-118443800	Weak transcription	Primary T cells from cord blood	blood
30	chr5:118415200-118447800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:118415400-118421600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:118415400-118421600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:118415400-118471600	Weak transcription	Right Ventricle	heart
34	chr5:118415600-118421800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:118415600-118422200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:118415600-118434600	Weak transcription	Dnd41	blood
37	chr5:118415800-118433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:118416000-118421400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:118416000-118430600	Weak transcription	Left Ventricle	heart
40	chr5:118416000-118439800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:118416000-118452600	Weak transcription	Psoas Muscle	Psoas
42	chr5:118416800-118421200	Weak transcription	Fetal Kidney	kidney
43	chr5:118416800-118441800	Weak transcription	Brain Substantia Nigra	brain
44	chr5:118417000-118427000	Weak transcription	Ovary	ovary
45	chr5:118417000-118434400	Weak transcription	Adipose Nuclei	Adipose
46	chr5:118417000-118446000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:118417000-118459200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:118417200-118429200	Weak transcription	Stomach Mucosa	stomach
49	chr5:118417200-118434200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:118417200-118451200	Weak transcription	H1 Cell Line	embryonic stem cell

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