Variant report

Variant	rs73034993
Chromosome Location	chr2:178464550-178464551
allele	C/G/T
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	SETDB1	chr2:178464473-178465104	U2OS	brain:	n/a	chr2:178464615-178464639
2	KAP1	chr2:178464502-178465064	HEK293	kidney:	n/a	n/a
3	FOXA1	chr2:178464425-178465133	HepG2	liver:	n/a	n/a
4	EP300	chr2:178464477-178465211	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:178464493-178465159	HepG2	liver:	n/a	n/a
6	FOXA2	chr2:178464507-178465120	HepG2	liver:	n/a	n/a
7	MYBL2	chr2:178463597-178464958	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178457660..178459858-chr2:178464141..178466236,2	K562	blood:

Variant related genes	Relation type
ENSG00000237655	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11886258	1.00[AMR][1000 genomes]
rs58023539	1.00[AFR][1000 genomes]
rs59234264	1.00[AMR][1000 genomes]
rs73026501	1.00[AMR][1000 genomes]
rs73028315	1.00[AMR][1000 genomes]
rs73028337	1.00[AMR][1000 genomes]
rs73032029	1.00[AMR][1000 genomes]
rs73038621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh 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	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178458600-178467800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:178461400-178466000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:178462000-178464800	Enhancers	Fetal Stomach	stomach
4	chr2:178462000-178468600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:178462400-178464600	Enhancers	Fetal Muscle Leg	muscle
6	chr2:178462400-178465000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:178462400-178467600	Weak transcription	Liver	Liver
8	chr2:178462600-178464600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:178462600-178464600	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:178462600-178464600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:178462600-178464600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:178462600-178464600	Enhancers	Spleen	Spleen
13	chr2:178462600-178464800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:178462800-178464600	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:178462800-178469000	Weak transcription	Small Intestine	intestine
16	chr2:178462800-178475600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:178462800-178482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:178463200-178464600	Enhancers	Adipose Nuclei	Adipose
19	chr2:178463200-178464600	Enhancers	Ovary	ovary
20	chr2:178463200-178471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:178463200-178471200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:178463400-178464600	Flanking Active TSS	HepG2	liver
23	chr2:178463600-178468600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:178463800-178465200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr2:178463800-178467600	Weak transcription	Fetal Brain Male	brain
26	chr2:178463800-178475400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:178464000-178464800	Enhancers	Brain Substantia Nigra	brain
28	chr2:178464000-178467000	Weak transcription	Fetal Lung	lung
29	chr2:178464000-178467400	Weak transcription	Fetal Brain Female	brain
30	chr2:178464200-178464600	Enhancers	Brain Hippocampus Middle	brain
31	chr2:178464200-178464600	Enhancers	Colon Smooth Muscle	Colon
32	chr2:178464200-178464800	Enhancers	Dnd41	blood
33	chr2:178464200-178467000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:178464200-178468600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:178464200-178469200	Weak transcription	Brain Anterior Caudate	brain
36	chr2:178464200-178471200	Weak transcription	HUVEC	blood vessel
37	chr2:178464200-178482600	Weak transcription	Psoas Muscle	Psoas
38	chr2:178464200-178482600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:178464400-178465000	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr2:178464400-178467000	Weak transcription	Fetal Kidney	kidney
41	chr2:178464400-178467400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:178464400-178467800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:178464400-178469000	Weak transcription	Brain Angular Gyrus	brain
44	chr2:178464400-178469000	Weak transcription	Left Ventricle	heart

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