Variant report

Variant	rs6879267
Chromosome Location	chr5:75010684-75010685
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75001250..75005615-chr5:75010572..75014500,9	K562	blood:
2	chr5:75010275..75012442-chr5:75036890..75039813,2	K562	blood:
3	chr5:75008837..75011583-chr5:75016834..75018987,2	K562	blood:
4	chr5:74756440..74758113-chr5:75010084..75012046,2	K562	blood:

Variant related genes	Relation type
ENSG00000207333	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16872769	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs16872772	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2059060	0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs40059	0.80[YRI][hapmap]
rs6453141	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6863912	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs6867195	0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6867386	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6880138	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7721611	0.90[AFR][1000 genomes];1.00[AMR][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74965200-75011800	Weak transcription	Brain Germinal Matrix	brain
2	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
5	chr5:74965600-75011400	Weak transcription	Small Intestine	intestine
6	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
7	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
8	chr5:74980000-75012200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:74984200-75012400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:74990000-75012000	Weak transcription	HSMMtube	muscle
11	chr5:74990000-75012400	Weak transcription	Esophagus	oesophagus
12	chr5:74992000-75012400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:74992600-75012600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:74996800-75012400	Weak transcription	Fetal Brain Male	brain
15	chr5:74997600-75011000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:74998200-75011600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:74998200-75012400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:74998400-75011400	Weak transcription	HepG2	liver
19	chr5:74998600-75011600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:74998600-75011600	Weak transcription	NHLF	lung
21	chr5:74998800-75011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:74998800-75011400	Weak transcription	Fetal Heart	heart
23	chr5:74998800-75011800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:74998800-75012000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:74998800-75012000	Weak transcription	Brain Anterior Caudate	brain
26	chr5:74998800-75012200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:74999000-75011400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:74999000-75011400	Weak transcription	Hela-S3	cervix
29	chr5:74999000-75011600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:74999000-75011600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:74999000-75011800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:74999000-75011800	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:74999000-75011800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:74999000-75012000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:74999000-75012200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:74999000-75012200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:74999000-75012400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:74999000-75012400	Weak transcription	Colonic Mucosa	Colon
39	chr5:74999200-75011400	Weak transcription	Fetal Lung	lung
40	chr5:74999600-75011400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:74999800-75011600	Weak transcription	HMEC	breast
42	chr5:74999800-75012400	Weak transcription	Right Atrium	heart
43	chr5:75000400-75011600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:75000400-75011800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:75000400-75012200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr5:75000600-75011400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:75000800-75011600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:75000800-75012000	Weak transcription	Osteobl	bone
49	chr5:75000800-75012400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr5:75001000-75012400	Weak transcription	Brain Angular Gyrus	brain

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