Variant report

Variant	rs7709284
Chromosome Location	chr5:43688923-43688924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43687575..43690039-chr5:43693394..43695374,2	K562	blood:
2	chr5:43685066..43687445-chr5:43687675..43690226,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35738789	0.94[AFR][1000 genomes]
rs7709214	0.81[AFR][1000 genomes]
rs7718532	0.88[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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43657600-43695200	Weak transcription	K562	blood
2	chr5:43659400-43696800	Weak transcription	Gastric	stomach
3	chr5:43659600-43706200	Weak transcription	Small Intestine	intestine
4	chr5:43659600-43710000	Weak transcription	Ovary	ovary
5	chr5:43661000-43695600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:43661000-43702800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:43661000-43711400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:43664800-43699800	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:43665200-43690400	Weak transcription	Fetal Lung	lung
10	chr5:43665200-43702400	Weak transcription	Fetal Heart	heart
11	chr5:43666800-43696600	Weak transcription	Spleen	Spleen
12	chr5:43667000-43695000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:43667000-43695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:43667000-43696800	Weak transcription	Lung	lung
15	chr5:43667000-43703200	Weak transcription	Colonic Mucosa	Colon
16	chr5:43667200-43695400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:43672400-43695800	Weak transcription	Esophagus	oesophagus
18	chr5:43673400-43695400	Weak transcription	Fetal Stomach	stomach
19	chr5:43673400-43696400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:43674600-43696400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:43674600-43699600	Weak transcription	Pancreas	Pancrea
22	chr5:43675200-43711400	Weak transcription	NH-A	brain
23	chr5:43676400-43695400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:43676400-43703200	Weak transcription	Osteobl	bone
25	chr5:43676600-43695400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:43676600-43701200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:43679000-43703600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:43679200-43702800	Weak transcription	HUVEC	blood vessel
29	chr5:43679600-43694200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:43679600-43695200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:43680800-43702400	Weak transcription	Hela-S3	cervix
32	chr5:43680800-43715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:43681000-43693000	Weak transcription	Fetal Brain Female	brain
34	chr5:43681000-43694200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:43681000-43695400	Weak transcription	Fetal Thymus	thymus
36	chr5:43681000-43696600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:43681000-43703000	Weak transcription	HSMM	muscle
38	chr5:43681200-43693400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:43682000-43694400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:43683000-43690000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:43683600-43689600	Weak transcription	Fetal Intestine Large	intestine
42	chr5:43683600-43695200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:43683600-43695400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr5:43683600-43696600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:43683800-43695000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr5:43684000-43701200	Weak transcription	HSMMtube	muscle
47	chr5:43684200-43695400	Weak transcription	Left Ventricle	heart
48	chr5:43684200-43695400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:43684200-43695400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:43684200-43695800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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