Variant report

Variant	rs59229716
Chromosome Location	chr4:166156144-166156145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:166155932-166156289	A549	lung:	n/a	chr4:166156102-166156113
2	CEBPB	chr4:166155934-166156230	Hela-S3	cervix:	n/a	chr4:166156102-166156113
3	CEBPB	chr4:166155921-166156292	H1-hESC	embryonic stem cell:	n/a	chr4:166156102-166156113
4	CEBPB	chr4:166155914-166156297	K562	blood:	n/a	chr4:166156102-166156113
5	CEBPB	chr4:166155917-166156195	K562	blood:	n/a	chr4:166156102-166156113
6	CEBPB	chr4:166155920-166156292	HepG2	liver:	n/a	chr4:166156102-166156113
7	CEBPB	chr4:166156029-166156154	HepG2	liver:	n/a	chr4:166156102-166156113
8	CEBPB	chr4:166156029-166156213	K562	blood:	n/a	chr4:166156102-166156113
9	CEBPB	chr4:166155919-166156297	IMR90	lung:	n/a	chr4:166156102-166156113

Variant related genes	Relation type
KLHL2	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11722307	0.87[ASN][1000 genomes]
rs11722313	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11726821	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11730744	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11730816	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11733838	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11734199	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17009130	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28446212	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34274617	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34962116	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55951309	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56246670	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56919208	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57645545	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59089770	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs59263314	0.87[ASN][1000 genomes]
rs59639455	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60197231	0.87[AMR][1000 genomes]
rs60459687	0.87[ASN][1000 genomes]
rs60905916	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72993964	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72993975	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72995922	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72995990	0.87[ASN][1000 genomes]
rs72995992	0.87[ASN][1000 genomes]
rs73860621	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73860622	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73875268	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
2	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:166130600-166200800	Weak transcription	Lung	lung
4	chr4:166131600-166162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:166131600-166165800	Weak transcription	Gastric	stomach
6	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:166132000-166156400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
9	chr4:166135800-166159000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:166136000-166176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:166137600-166162800	Weak transcription	NH-A	brain
12	chr4:166137800-166194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:166138000-166157200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:166138000-166161600	Weak transcription	HSMMtube	muscle
15	chr4:166138200-166168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:166138400-166185600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:166142800-166165800	Weak transcription	Esophagus	oesophagus
18	chr4:166142800-166176800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:166143600-166156600	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:166143800-166159400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:166144000-166156600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:166144000-166159400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:166144000-166161200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:166144000-166162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:166144000-166163200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:166144000-166165000	Weak transcription	Primary B cells from cord blood	blood
27	chr4:166144000-166165400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:166144000-166176000	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:166144200-166160200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:166144200-166168800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:166144200-166168800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:166144200-166168800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:166144600-166159200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr4:166144600-166159200	Weak transcription	Brain Anterior Caudate	brain
35	chr4:166144600-166159200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:166144600-166159800	Weak transcription	Adipose Nuclei	Adipose
37	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:166144800-166159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:166144800-166159400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:166144800-166159400	Weak transcription	Liver	Liver
41	chr4:166144800-166176200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:166146400-166160600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:166147000-166159200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:166147000-166165400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:166147000-166176400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:166148600-166162600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:166149000-166159200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:166149000-166160400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:166151200-166168400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:166151200-166176000	Weak transcription	Dnd41	blood

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