Variant report

Variant	rs59433516
Chromosome Location	chr2:46785584-46785585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46769527..46771169-chr2:46785080..46787401,2	MCF-7	breast:
2	chr2:46782460..46784571-chr2:46785094..46788093,2	K562	blood:

Variant related genes	Relation type
ENSG00000119729	Chromatin interaction
ENSG00000250565	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17035286	0.94[EUR][1000 genomes]
rs17035292	0.94[EUR][1000 genomes]
rs17035301	0.82[ASN][1000 genomes]
rs17035304	0.88[EUR][1000 genomes]
rs17035318	0.94[ASN][1000 genomes]
rs17035332	0.94[ASN][1000 genomes]
rs17035346	0.88[ASN][1000 genomes]
rs17035362	0.81[EUR][1000 genomes]
rs1901261	0.94[ASN][1000 genomes]
rs57721045	0.81[EUR][1000 genomes]
rs59246575	0.94[ASN][1000 genomes]
rs60466780	0.94[ASN][1000 genomes]
rs61159979	0.94[EUR][1000 genomes]
rs61678061	0.94[ASN][1000 genomes]
rs6544903	0.81[EUR][1000 genomes]
rs6740585	1.00[EUR][1000 genomes]
rs72877466	0.81[EUR][1000 genomes]
rs73927878	0.81[ASN][1000 genomes]
rs7557785	0.94[EUR][1000 genomes]
rs7577966	0.88[EUR][1000 genomes]
rs7599922	0.88[EUR][1000 genomes]
rs982413	0.88[ASN][1000 genomes]
rs982414	0.88[ASN][1000 genomes]
rs982710	0.88[ASN][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	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv9713	chr2:46775356-46790566	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46771200-46812800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:46771400-46789600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:46771400-46796000	Weak transcription	Fetal Kidney	kidney
4	chr2:46771800-46795600	Weak transcription	Fetal Brain Male	brain
5	chr2:46772200-46804000	Weak transcription	NH-A	brain
6	chr2:46773200-46806000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:46774800-46789200	Weak transcription	Pancreas	Pancrea
8	chr2:46775200-46787200	Weak transcription	Gastric	stomach
9	chr2:46775200-46788600	Weak transcription	A549	lung
10	chr2:46775600-46815800	Weak transcription	Fetal Brain Female	brain
11	chr2:46776400-46789000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:46776600-46786000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:46776600-46789000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:46776800-46794600	Weak transcription	Ovary	ovary
15	chr2:46777000-46788600	Weak transcription	Colonic Mucosa	Colon
16	chr2:46777000-46788800	Weak transcription	HSMMtube	muscle
17	chr2:46777000-46789200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:46778400-46788600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:46778600-46786000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:46779000-46790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:46779000-46790600	Weak transcription	K562	blood
22	chr2:46779800-46788400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:46779800-46794600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:46780000-46785600	Weak transcription	Thymus	Thymus
25	chr2:46782000-46786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:46782200-46798400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:46782400-46786200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:46782400-46786600	Weak transcription	Lung	lung
29	chr2:46782400-46806600	Weak transcription	Brain Germinal Matrix	brain
30	chr2:46782800-46788800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:46782800-46803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:46783000-46786000	Weak transcription	Psoas Muscle	Psoas
33	chr2:46783000-46786600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:46783000-46786800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:46783000-46788400	Weak transcription	Spleen	Spleen
36	chr2:46783000-46789200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:46783000-46792000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:46783000-46795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:46783000-46796800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:46783000-46807200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:46783200-46786000	Weak transcription	Right Atrium	heart
42	chr2:46783200-46786600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:46783200-46788600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:46783200-46788800	Weak transcription	Brain Angular Gyrus	brain
45	chr2:46783200-46791600	Weak transcription	Esophagus	oesophagus
46	chr2:46783200-46795400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:46783200-46803000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:46783400-46786600	Weak transcription	Right Ventricle	heart
49	chr2:46783400-46789200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:46783600-46838000	Weak transcription	H1 Cell Line	embryonic stem cell

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