Variant report

Variant	rs72806576
Chromosome Location	chr2:47237120-47237121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47235055..47237269-chr2:47239920..47242362,2	MCF-7	breast:
2	chr2:47235723..47238887-chr2:47238980..47241912,3	MCF-7	breast:
3	chr2:47236504..47238661-chr2:47402263..47404093,2	K562	blood:
4	chr2:47226708..47229516-chr2:47234175..47237170,3	K562	blood:
5	chr2:47225653..47227816-chr2:47235641..47238681,3	MCF-7	breast:
6	chr2:47237082..47239286-chr2:47241685..47244627,2	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17036039	1.00[EUR][1000 genomes]
rs56179906	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58674434	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61155978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72806578	1.00[EUR][1000 genomes]
rs72806585	0.96[EUR][1000 genomes]
rs72806588	0.89[EUR][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	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	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
8	nsv517929	chr2:47217094-47243312	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv518312	chr2:47224927-47262137	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
4	chr2:47214800-47237200	Strong transcription	Primary T cells from cord blood	blood
5	chr2:47214800-47239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:47216400-47241600	Strong transcription	Fetal Thymus	thymus
9	chr2:47222000-47260600	Weak transcription	Small Intestine	intestine
10	chr2:47223400-47238400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:47223400-47239400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:47223600-47239400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:47223600-47246800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:47224800-47238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:47229200-47243000	Enhancers	Fetal Brain Male	brain
16	chr2:47229200-47248600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:47230200-47302800	Strong transcription	Dnd41	blood
18	chr2:47230800-47243000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:47231400-47242000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:47231400-47243000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:47231600-47239400	Weak transcription	NHEK	skin
22	chr2:47231600-47241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:47231600-47243000	Strong transcription	Placenta	Placenta
24	chr2:47231600-47243000	Weak transcription	HUVEC	blood vessel
25	chr2:47231800-47243800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:47232000-47240000	Weak transcription	Hela-S3	cervix
27	chr2:47232000-47241600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:47232000-47265000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:47232400-47241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:47232400-47245000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:47232400-47257000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:47232800-47244000	Strong transcription	Esophagus	oesophagus
33	chr2:47234000-47237400	Enhancers	HSMMtube	muscle
34	chr2:47234200-47237200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:47234200-47239200	Enhancers	Colon Smooth Muscle	Colon
36	chr2:47234400-47237400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:47234400-47237600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:47234400-47238200	Weak transcription	Liver	Liver
39	chr2:47234400-47239000	Weak transcription	GM12878-XiMat	blood
40	chr2:47234400-47283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:47234600-47237200	Enhancers	Fetal Muscle Leg	muscle
42	chr2:47234600-47237400	Enhancers	Brain Hippocampus Middle	brain
43	chr2:47234600-47238400	Weak transcription	HMEC	breast
44	chr2:47235000-47238200	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:47235200-47238400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:47235200-47238400	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:47235400-47237600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:47235400-47238400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:47235600-47238200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:47235800-47237600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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