Variant report

Variant	rs12652124
Chromosome Location	chr5:68582160-68582161
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	chr5:68580179..68583024-chr5:68584330..68585895,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12651858	0.85[ASN][1000 genomes]
rs12656918	0.85[ASN][1000 genomes]
rs12657418	0.81[ASN][1000 genomes]
rs2054977	0.81[ASN][1000 genomes]
rs3934529	0.85[ASN][1000 genomes]
rs4976158	0.81[ASN][1000 genomes]
rs60824482	0.81[ASN][1000 genomes]
rs73125295	0.81[ASN][1000 genomes]
rs73127319	0.81[ASN][1000 genomes]
rs73127323	0.81[ASN][1000 genomes]
rs73127331	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68531200-68584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68531400-68605000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:68541200-68620400	Weak transcription	Stomach Mucosa	stomach
4	chr5:68552200-68588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:68553800-68587800	Weak transcription	Colonic Mucosa	Colon
6	chr5:68554200-68604400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:68559000-68583400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:68559600-68584000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:68562600-68584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:68563000-68585200	Strong transcription	Liver	Liver
11	chr5:68564200-68611200	Weak transcription	Fetal Brain Male	brain
12	chr5:68565600-68627400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:68566000-68591000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:68566800-68610800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:68573000-68587800	Weak transcription	Hela-S3	cervix
16	chr5:68573000-68590600	Weak transcription	HUVEC	blood vessel
17	chr5:68573200-68585600	Strong transcription	Fetal Intestine Small	intestine
18	chr5:68574000-68585000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:68575600-68584200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:68575600-68605000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:68575600-68608200	Weak transcription	Right Ventricle	heart
22	chr5:68576000-68583800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:68576000-68584200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:68576000-68605200	Weak transcription	Left Ventricle	heart
25	chr5:68576200-68584200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:68576200-68590600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:68576200-68605200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:68576200-68609400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:68576400-68583800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:68576400-68583800	Weak transcription	Fetal Lung	lung
31	chr5:68576400-68584000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:68576400-68591000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:68576400-68593000	Weak transcription	HMEC	breast
34	chr5:68576400-68614400	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:68576400-68627600	Weak transcription	Brain Substantia Nigra	brain
36	chr5:68576400-68627800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:68576600-68582800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:68576600-68583600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:68576600-68583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:68576600-68595400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:68576600-68627800	Weak transcription	Brain Angular Gyrus	brain
42	chr5:68577000-68591200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:68577200-68584000	Weak transcription	Lung	lung
44	chr5:68577200-68601400	Weak transcription	Aorta	Aorta
45	chr5:68577400-68583600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:68577400-68583800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:68577400-68584200	Weak transcription	Gastric	stomach
48	chr5:68577400-68588400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:68577400-68590400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:68577400-68594400	Weak transcription	Esophagus	oesophagus

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