Variant report

Variant	rs56370618
Chromosome Location	chr4:166135974-166135975
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166128687..166131040-chr4:166134641..166136859,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109466	Chromatin interaction
ENSG00000170088	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10517833	1.00[ASN][1000 genomes]
rs17488289	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17488436	1.00[ASN][1000 genomes]
rs17488814	0.89[ASN][1000 genomes]
rs17488835	0.89[ASN][1000 genomes]
rs17488877	0.89[ASN][1000 genomes]
rs17585396	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17585550	1.00[ASN][1000 genomes]
rs1818471	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1986031	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35180362	0.94[EUR][1000 genomes]
rs36230153	0.89[ASN][1000 genomes]
rs3901486	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588420	1.00[ASN][1000 genomes]
rs55648903	1.00[ASN][1000 genomes]
rs55650232	1.00[ASN][1000 genomes]
rs55806488	0.90[ASN][1000 genomes]
rs56022310	1.00[ASN][1000 genomes]
rs56058696	1.00[ASN][1000 genomes]
rs56104713	1.00[ASN][1000 genomes]
rs56144732	1.00[ASN][1000 genomes]
rs56287687	1.00[ASN][1000 genomes]
rs56326646	1.00[ASN][1000 genomes]
rs56387271	0.89[ASN][1000 genomes]
rs56407727	1.00[ASN][1000 genomes]
rs56410965	1.00[ASN][1000 genomes]
rs57162477	1.00[ASN][1000 genomes]
rs58426709	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6831119	1.00[ASN][1000 genomes]
rs6853219	1.00[ASN][1000 genomes]
rs72699595	1.00[ASN][1000 genomes]
rs72699598	1.00[ASN][1000 genomes]
rs72701606	1.00[ASN][1000 genomes]
rs72701608	1.00[ASN][1000 genomes]
rs72701655	0.89[ASN][1000 genomes]
rs72701660	0.89[ASN][1000 genomes]
rs72701663	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv967809	chr4:166131906-166137884	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56370618	KLHL2	cis	Artery Tibial	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166137800	Weak transcription	Small Intestine	intestine
2	chr4:166129600-166154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
4	chr4:166129800-166142600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:166130200-166137600	Weak transcription	HSMMtube	muscle
6	chr4:166130200-166150800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:166130400-166137200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:166130400-166138000	Weak transcription	Stomach Mucosa	stomach
9	chr4:166130400-166142400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:166130400-166143400	Weak transcription	Fetal Thymus	thymus
11	chr4:166130400-166143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:166130400-166143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:166130400-166143600	Weak transcription	HSMM	muscle
14	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
15	chr4:166130600-166136800	Weak transcription	Adipose Nuclei	Adipose
16	chr4:166130600-166137000	Weak transcription	NH-A	brain
17	chr4:166130600-166137800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:166130600-166142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:166130600-166142400	Weak transcription	Right Ventricle	heart
20	chr4:166130600-166142800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:166130600-166143200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:166130600-166146200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:166130600-166200800	Weak transcription	Lung	lung
24	chr4:166131200-166142400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:166131200-166142600	Weak transcription	Psoas Muscle	Psoas
26	chr4:166131200-166143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:166131400-166148600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:166131600-166137800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:166131600-166138600	Weak transcription	Esophagus	oesophagus
30	chr4:166131600-166143200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr4:166131600-166143400	Weak transcription	Dnd41	blood
32	chr4:166131600-166162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:166131600-166165800	Weak transcription	Gastric	stomach
34	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:166132000-166143600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:166132000-166156400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:166132200-166136200	Weak transcription	Hela-S3	cervix
38	chr4:166132200-166143600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:166132200-166143800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
41	chr4:166132400-166136200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:166132400-166137400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:166132400-166137600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:166133000-166142400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:166133800-166137800	Enhancers	NHEK	skin
46	chr4:166133800-166138600	Enhancers	HMEC	breast
47	chr4:166134000-166146000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:166134200-166136600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:166134400-166137800	Enhancers	HUVEC	blood vessel
50	chr4:166134400-166143400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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