Variant report

Variant	rs4765838
Chromosome Location	chr12:1779753-1779754
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1771041..1773403-chr12:1779231..1780739,2	MCF-7	breast:
2	chr12:1769849..1773599-chr12:1775643..1780093,7	K562	blood:
3	chr12:1777992..1779826-chr12:1874952..1877625,2	K562	blood:
4	chr12:1774859..1776787-chr12:1777892..1781197,3	K562	blood:
5	chr12:1774567..1781960-chr12:1797936..1801472,7	MCF-7	breast:
6	chr12:1775192..1776787-chr12:1778415..1781197,2	K562	blood:
7	chr12:1779410..1779992-chr21:28217201..28218136,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000154734	Chromatin interaction
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11061904	1.00[EUR][1000 genomes]
rs1860049	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2041059	1.00[EUR][1000 genomes]
rs2108398	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2369974	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2370054	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35510932	1.00[EUR][1000 genomes]
rs4766411	1.00[EUR][1000 genomes]
rs4766420	1.00[EUR][1000 genomes]
rs56369812	1.00[EUR][1000 genomes]
rs6489321	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6489325	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133749	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7135229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7297878	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7304843	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308757	1.00[EUR][1000 genomes]
rs7314133	1.00[EUR][1000 genomes]
rs74061311	1.00[EUR][1000 genomes]
rs74061331	1.00[EUR][1000 genomes]
rs74061332	1.00[EUR][1000 genomes]
rs758026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs758027	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs758169	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7957003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962777	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964434	1.00[EUR][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	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1775200-1780000	Enhancers	Fetal Thymus	thymus
2	chr12:1775200-1780400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:1775200-1781200	Enhancers	Fetal Intestine Small	intestine
4	chr12:1777400-1781000	Enhancers	Fetal Intestine Large	intestine
5	chr12:1777800-1780600	Enhancers	Hela-S3	cervix
6	chr12:1778200-1780000	Enhancers	Adipose Nuclei	Adipose
7	chr12:1778200-1781000	Enhancers	Stomach Mucosa	stomach
8	chr12:1778400-1780600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:1778600-1780000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:1778600-1780000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:1778800-1780600	Enhancers	HepG2	liver
12	chr12:1779200-1780200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:1779200-1780600	Enhancers	Liver	Liver
14	chr12:1779400-1779800	Enhancers	Left Ventricle	heart
15	chr12:1779400-1780000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:1779600-1779800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:1779600-1779800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:1779600-1779800	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr12:1779600-1779800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr12:1779600-1779800	Enhancers	Right Atrium	heart
21	chr12:1779600-1780200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:1779600-1780200	Active TSS	Colonic Mucosa	Colon
23	chr12:1779600-1780400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:1779600-1780800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr12:1779600-1782200	Weak transcription	Small Intestine	intestine

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