Variant report

Variant	rs72806558
Chromosome Location	chr2:47212864-47212865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47166581..47170403-chr2:47208479..47213858,6	MCF-7	breast:
2	chr2:47209484..47211730-chr2:47212313..47214032,2	MCF-7	breast:
3	chr2:47212569..47215623-chr2:47548901..47551029,3	K562	blood:
4	chr2:47188688..47191664-chr2:47211239..47213547,2	K562	blood:
5	chr2:47211199..47217347-chr2:47399008..47404700,12	K562	blood:
6	chr2:47141281..47143622-chr2:47212443..47214863,2	MCF-7	breast:
7	chr2:47209205..47217024-chr2:47399516..47404811,13	MCF-7	breast:
8	chr2:47212859..47216615-chr2:47301507..47304672,4	MCF-7	breast:
9	chr2:47194084..47197081-chr2:47210689..47213163,3	MCF-7	breast:
10	chr2:47211854..47216258-chr2:47229137..47232912,5	K562	blood:
11	chr2:47210303..47217706-chr2:47402135..47406405,13	MCF-7	breast:
12	chr2:47212292..47217234-chr2:47401238..47405508,6	K562	blood:
13	chr2:47212036..47214586-chr2:47495464..47497856,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000180398	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13399571	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480869	1.00[ASN][1000 genomes]
rs17480988	1.00[ASN][1000 genomes]
rs17481037	1.00[ASN][1000 genomes]
rs17481209	1.00[ASN][1000 genomes]
rs17540157	1.00[ASN][1000 genomes]
rs17540219	1.00[ASN][1000 genomes]
rs17540462	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814035	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55641002	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55805005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55824224	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56186415	0.87[ASN][1000 genomes]
rs58637066	1.00[ASN][1000 genomes]
rs58674434	1.00[ASN][1000 genomes]
rs59785154	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60732316	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6726941	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6727430	1.00[ASN][1000 genomes]
rs6727529	1.00[ASN][1000 genomes]
rs6751599	1.00[ASN][1000 genomes]
rs6751621	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754795	1.00[ASN][1000 genomes]
rs6755001	1.00[ASN][1000 genomes]
rs72806525	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806536	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806537	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806538	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806541	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806562	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806571	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564728	1.00[ASN][1000 genomes]
rs7576915	1.00[ASN][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv581750	chr2:47207665-47229953	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv525197	chr2:47210747-47297973	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
2	chr2:47196600-47227800	Strong transcription	Dnd41	blood
3	chr2:47200800-47216400	Genic enhancers	Fetal Thymus	thymus
4	chr2:47201600-47213200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:47202000-47214800	Genic enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:47203800-47213000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:47206200-47213000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:47206600-47213800	Weak transcription	Fetal Lung	lung
9	chr2:47206800-47213800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:47207200-47213800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:47207200-47214200	Genic enhancers	Primary T cells from cord blood	blood
12	chr2:47207200-47214400	Weak transcription	Brain Germinal Matrix	brain
13	chr2:47207600-47213800	Weak transcription	Fetal Brain Male	brain
14	chr2:47208000-47217400	Enhancers	Stomach Mucosa	stomach
15	chr2:47208200-47214600	Weak transcription	Fetal Brain Female	brain
16	chr2:47208400-47214800	Enhancers	HUVEC	blood vessel
17	chr2:47208600-47216000	Enhancers	Brain Substantia Nigra	brain
18	chr2:47208600-47219200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:47209000-47213400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:47209400-47217200	Genic enhancers	NHLF	lung
21	chr2:47209600-47213200	Enhancers	Brain Angular Gyrus	brain
22	chr2:47209600-47214600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:47209600-47215200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:47209600-47217400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:47209600-47218200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:47209800-47213800	Strong transcription	Fetal Intestine Small	intestine
27	chr2:47209800-47214000	Strong transcription	HepG2	liver
28	chr2:47209800-47214400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:47209800-47214800	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:47210000-47215200	Enhancers	Brain Anterior Caudate	brain
31	chr2:47210200-47213400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:47210200-47214600	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr2:47210200-47214600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:47210200-47215200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:47210200-47215800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:47210400-47214800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:47210600-47214000	Weak transcription	Gastric	stomach
38	chr2:47210600-47215600	Weak transcription	Psoas Muscle	Psoas
39	chr2:47210600-47215600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:47210600-47216600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:47210800-47214000	Strong transcription	Fetal Intestine Large	intestine
42	chr2:47210800-47214200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:47210800-47215800	Enhancers	Spleen	Spleen
44	chr2:47211000-47213000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:47211000-47214600	Genic enhancers	Thymus	Thymus
46	chr2:47211000-47214800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:47211000-47215800	Enhancers	Brain Hippocampus Middle	brain
48	chr2:47211200-47214200	Enhancers	K562	blood
49	chr2:47211200-47214400	Enhancers	Colon Smooth Muscle	Colon
50	chr2:47211200-47214400	Enhancers	Rectal Mucosa Donor 29	rectum

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