Variant report

Variant	rs28493629
Chromosome Location	chr4:165996447-165996448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10027850	0.88[AFR][1000 genomes]
rs12509915	0.89[AFR][1000 genomes]
rs28450893	0.87[AFR][1000 genomes]
rs28594328	0.87[AFR][1000 genomes]
rs28673499	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	esv1835468	chr4:165969625-166023258	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
8	esv1840053	chr4:165969625-166023258	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
9	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28493629	KLHL2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165979000-166005600	Weak transcription	Pancreas	Pancrea
2	chr4:165980400-166000400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:165980600-166005800	Weak transcription	Aorta	Aorta
4	chr4:165980600-166007000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:165981000-165996800	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:165981000-165997400	Weak transcription	Brain Anterior Caudate	brain
7	chr4:165981000-165999000	Weak transcription	Brain Substantia Nigra	brain
8	chr4:165982000-166000400	Weak transcription	Ovary	ovary
9	chr4:165982200-166000400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:165985000-166007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:165990600-166007000	Weak transcription	Right Ventricle	heart
12	chr4:165990800-166026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:165991400-166000600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:165991600-166008400	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:165993200-165999800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:165993200-166000000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:165993600-166007000	Weak transcription	Fetal Lung	lung
18	chr4:165994000-165997000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr4:165994000-165999400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:165994000-165999600	Weak transcription	Primary B cells from cord blood	blood
21	chr4:165994000-166000200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:165994200-165996800	Weak transcription	Fetal Intestine Large	intestine
23	chr4:165994200-165999000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:165994200-166007800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:165994200-166008600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:165994400-165996600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:165994400-165998200	Weak transcription	Liver	Liver
28	chr4:165994400-166000400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:165994400-166006600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:165994600-165999000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:165994600-166000200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:165994600-166000400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:165994600-166000400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:165994600-166000400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:165994600-166000400	Weak transcription	Primary T cells from cord blood	blood
36	chr4:165994600-166006000	Weak transcription	Placenta	Placenta
37	chr4:165994600-166032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:165994800-165998400	Weak transcription	Brain Germinal Matrix	brain
39	chr4:165994800-165999400	Weak transcription	Adipose Nuclei	Adipose
40	chr4:165994800-166005600	Weak transcription	Fetal Brain Female	brain
41	chr4:165994800-166006400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:165994800-166007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:165995000-165996600	Weak transcription	Fetal Stomach	stomach
44	chr4:165995200-165997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:165995200-166000200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:165995200-166000600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:165995400-165996600	Weak transcription	Fetal Intestine Small	intestine
48	chr4:165995400-165997400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:165995400-165998000	Weak transcription	Left Ventricle	heart
50	chr4:165995400-166000400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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