Variant report

Variant	rs12519270
Chromosome Location	chr5:68393275-68393276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68392345..68395131-chr5:68404844..68408147,4	K562	blood:
2	chr5:68392072..68393994-chr5:68636820..68639072,2	K562	blood:
3	chr5:68389331..68393521-chr5:68397846..68403936,9	K562	blood:
4	chr5:68392032..68393826-chr5:68411888..68414072,2	K562	blood:

Variant related genes	Relation type
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10454824	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743118	0.86[ASN][1000 genomes]
rs12522805	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185437	0.94[ASN][1000 genomes]
rs16898486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898499	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976217	0.99[ASN][1000 genomes]
rs58151499	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58575768	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59734653	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67722222	0.96[ASN][1000 genomes]
rs7718228	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7719198	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7719482	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7733034	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr5:68390600-68405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68390800-68395800	Weak transcription	Aorta	Aorta
3	chr5:68390800-68395800	Weak transcription	Esophagus	oesophagus
4	chr5:68390800-68405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:68391000-68393600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:68391000-68398800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:68391000-68399000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:68391000-68399000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:68391000-68399000	Weak transcription	NHDF-Ad	bronchial
10	chr5:68391000-68399200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:68391000-68399200	Weak transcription	Fetal Kidney	kidney
12	chr5:68391000-68400600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:68391000-68401000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:68391000-68401000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:68391000-68402800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:68391000-68403000	Weak transcription	HSMMtube	muscle
17	chr5:68391000-68415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:68391200-68394400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:68391200-68398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:68391200-68399000	Weak transcription	Brain Angular Gyrus	brain
21	chr5:68391200-68399200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:68391200-68401200	Weak transcription	Right Ventricle	heart
23	chr5:68391200-68402600	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:68391200-68405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:68391200-68405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:68391200-68405600	Weak transcription	Psoas Muscle	Psoas
27	chr5:68391400-68393600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:68391400-68393600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:68391400-68393800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:68391400-68394200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:68391400-68394200	Weak transcription	NH-A	brain
32	chr5:68391400-68394800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:68391400-68395200	Weak transcription	Left Ventricle	heart
34	chr5:68391400-68395200	Weak transcription	Ovary	ovary
35	chr5:68391400-68395200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:68391400-68395600	Weak transcription	Adipose Nuclei	Adipose
37	chr5:68391400-68395800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:68391400-68398000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:68391400-68398600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:68391400-68398800	Strong transcription	Fetal Stomach	stomach
41	chr5:68391400-68398800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:68391400-68399000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:68391400-68399000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:68391400-68399000	Weak transcription	HSMM	muscle
45	chr5:68391400-68399000	Weak transcription	NHEK	skin
46	chr5:68391400-68399200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:68391400-68399200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:68391400-68399200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:68391400-68401000	Weak transcription	Fetal Brain Female	brain
50	chr5:68391400-68401200	Weak transcription	Gastric	stomach

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