Variant report

Variant	rs62327350
Chromosome Location	chr4:152641202-152641203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:152592436..152594592-chr4:152638948..152641316,2	K562	blood:
2	chr4:152639673..152642588-chr4:152644678..152647356,2	K562	blood:
3	chr4:152635107..152637288-chr4:152639699..152641567,2	K562	blood:
4	chr4:152635788..152637473-chr4:152638727..152641567,2	K562	blood:

Variant related genes	Relation type
ENSG00000059691	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10001603	0.81[EUR][1000 genomes]
rs10022023	0.82[EUR][1000 genomes]
rs11723395	0.80[EUR][1000 genomes]
rs11723438	0.80[EUR][1000 genomes]
rs11726892	0.81[EUR][1000 genomes]
rs11736116	0.80[EUR][1000 genomes]
rs11931934	0.81[EUR][1000 genomes]
rs11932059	0.80[EUR][1000 genomes]
rs12645029	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649199	0.83[EUR][1000 genomes]
rs12650655	0.81[EUR][1000 genomes]
rs12651635	0.81[EUR][1000 genomes]
rs17275598	0.82[EUR][1000 genomes]
rs17360371	0.82[EUR][1000 genomes]
rs17360385	0.86[EUR][1000 genomes]
rs1822346	0.80[EUR][1000 genomes]
rs1822347	0.80[EUR][1000 genomes]
rs2407069	0.80[EUR][1000 genomes]
rs4696102	0.80[EUR][1000 genomes]
rs4696272	0.80[EUR][1000 genomes]
rs4696275	0.80[EUR][1000 genomes]
rs4696276	0.80[EUR][1000 genomes]
rs4696278	0.80[EUR][1000 genomes]
rs4696279	0.82[EUR][1000 genomes]
rs4696280	0.81[EUR][1000 genomes]
rs4696288	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696289	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696290	0.82[EUR][1000 genomes]
rs62327269	0.80[EUR][1000 genomes]
rs62327270	0.80[EUR][1000 genomes]
rs62327271	0.80[EUR][1000 genomes]
rs62327277	0.81[EUR][1000 genomes]
rs62327278	0.81[EUR][1000 genomes]
rs62327349	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6811676	0.81[EUR][1000 genomes]
rs718800	0.80[EUR][1000 genomes]
rs718801	0.80[EUR][1000 genomes]
rs7678080	0.81[EUR][1000 genomes]
rs7685697	0.81[EUR][1000 genomes]
rs7689266	0.82[EUR][1000 genomes]
rs7692700	0.81[EUR][1000 genomes]
rs875667	0.80[EUR][1000 genomes]
rs875668	0.80[EUR][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	nsv508322	chr4:152617079-152678951	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152591200-152646800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:152598400-152648200	Weak transcription	HMEC	breast
3	chr4:152609800-152646200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:152612000-152651000	Weak transcription	K562	blood
5	chr4:152612400-152642600	Weak transcription	NHLF	lung
6	chr4:152614600-152651200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:152615000-152651000	Weak transcription	HSMM	muscle
8	chr4:152616600-152665400	Weak transcription	NHDF-Ad	bronchial
9	chr4:152621400-152651600	Weak transcription	Small Intestine	intestine
10	chr4:152622000-152644600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:152623000-152646200	Weak transcription	Fetal Lung	lung
12	chr4:152623200-152648200	Weak transcription	NHEK	skin
13	chr4:152623800-152642600	Weak transcription	Fetal Kidney	kidney
14	chr4:152624000-152645600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:152624000-152646400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:152625000-152651000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:152625200-152642400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:152629000-152658800	Weak transcription	Pancreas	Pancrea
19	chr4:152629200-152642600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:152629200-152657400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:152629200-152681400	Weak transcription	Colonic Mucosa	Colon
22	chr4:152629400-152645600	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:152629400-152648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:152629400-152651200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:152629400-152651200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:152629400-152681200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:152629600-152648400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:152631200-152651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:152633400-152657000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:152633800-152641400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:152634800-152641400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:152634800-152641400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:152635200-152641400	Strong transcription	Liver	Liver
34	chr4:152636200-152644400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:152636600-152644600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:152636600-152647200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:152636600-152651000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:152636600-152651000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:152637200-152641400	Enhancers	Brain Angular Gyrus	brain
40	chr4:152637200-152641600	Strong transcription	Fetal Intestine Small	intestine
41	chr4:152638000-152641400	Strong transcription	Aorta	Aorta
42	chr4:152638000-152648400	Weak transcription	Primary B cells from cord blood	blood
43	chr4:152638000-152651600	Weak transcription	Ovary	ovary
44	chr4:152638200-152646200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:152638200-152649600	Weak transcription	GM12878-XiMat	blood
46	chr4:152638200-152651600	Weak transcription	Fetal Intestine Large	intestine
47	chr4:152639000-152641400	Enhancers	Brain Hippocampus Middle	brain
48	chr4:152639000-152641600	Enhancers	Brain Substantia Nigra	brain
49	chr4:152639000-152642400	Weak transcription	Thymus	Thymus
50	chr4:152639200-152641400	Enhancers	Brain Inferior Temporal Lobe	brain

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