Variant report

Variant	rs72701615
Chromosome Location	chr4:166235901-166235902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166232746..166237038-chr4:166237452..166240574,3	K562	blood:
2	chr4:166206637..166209635-chr4:166235769..166238670,2	K562	blood:
3	chr4:166233994..166236733-chr4:166247142..166249304,2	K562	blood:

Variant related genes	Relation type
ENSG00000052802	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13353819	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28678592	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34317779	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890624	0.82[EUR][1000 genomes]
rs4588420	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55672136	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56022310	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56058314	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56245360	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326646	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57162477	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67414450	0.87[EUR][1000 genomes]
rs72701608	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72701616	0.82[EUR][1000 genomes]
rs72701618	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681175	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934815	0.86[EUR][1000 genomes];0.93[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	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72701615	KLHL2	cis	Artery Tibial	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166214400-166246600	Weak transcription	Placenta	Placenta
2	chr4:166216000-166236800	Weak transcription	Colonic Mucosa	Colon
3	chr4:166216400-166240200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:166219200-166240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:166219400-166246600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:166219400-166246600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:166219600-166246800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:166220000-166246600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:166220000-166247000	Weak transcription	Spleen	Spleen
10	chr4:166220000-166247400	Weak transcription	Fetal Stomach	stomach
11	chr4:166220000-166247800	Weak transcription	Right Ventricle	heart
12	chr4:166223400-166236400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:166223400-166244800	Weak transcription	HUVEC	blood vessel
14	chr4:166223400-166246400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:166223400-166246600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:166223400-166246600	Weak transcription	Esophagus	oesophagus
17	chr4:166223400-166246600	Weak transcription	HSMM	muscle
18	chr4:166223400-166246600	Weak transcription	HSMMtube	muscle
19	chr4:166223400-166246800	Weak transcription	Ovary	ovary
20	chr4:166223400-166247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:166223400-166247600	Weak transcription	Thymus	Thymus
22	chr4:166223400-166247800	Weak transcription	Aorta	Aorta
23	chr4:166223400-166248000	Weak transcription	Gastric	stomach
24	chr4:166223600-166239000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:166223600-166240200	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:166223600-166246600	Weak transcription	GM12878-XiMat	blood
27	chr4:166223600-166247000	Weak transcription	Brain Anterior Caudate	brain
28	chr4:166223600-166247200	Weak transcription	Brain Angular Gyrus	brain
29	chr4:166223600-166247200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:166223600-166247400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr4:166223600-166247400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:166223600-166247600	Weak transcription	Fetal Lung	lung
33	chr4:166223800-166247600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:166224200-166247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:166224200-166247600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr4:166224400-166247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:166229600-166237800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:166229600-166238200	Strong transcription	Primary B cells from cord blood	blood
39	chr4:166230000-166240400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:166230000-166241800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:166230400-166245200	Weak transcription	NHEK	skin
42	chr4:166230400-166246400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:166230600-166238600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:166230600-166240400	Weak transcription	Fetal Brain Male	brain
45	chr4:166230600-166240600	Weak transcription	K562	blood
46	chr4:166230600-166244600	Weak transcription	Fetal Intestine Small	intestine
47	chr4:166230600-166245400	Weak transcription	HMEC	breast
48	chr4:166230800-166240400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:166230800-166246600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:166230800-166246800	Weak transcription	H1 Cell Line	embryonic stem cell

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