Variant report

Variant	rs72918947
Chromosome Location	chr2:55492661-55492662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55480148..55483393-chr2:55492366..55494655,3	K562	blood:
2	chr2:55462896..55465238-chr2:55491054..55493846,2	MCF-7	breast:
3	chr2:55489175..55493124-chr2:55494672..55498680,8	MCF-7	breast:
4	chr2:55491409..55498987-chr2:55507178..55511380,11	MCF-7	breast:
5	chr2:55490801..55492846-chr2:55494879..55496493,2	K562	blood:
6	chr2:55481797..55485521-chr2:55489463..55492846,3	K562	blood:

Variant related genes	Relation type
ENSG00000162997	Chromatin interaction
ENSG00000085760	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1133183	0.92[AFR][1000 genomes]
rs17046786	1.00[AFR][1000 genomes]
rs35662893	1.00[AFR][1000 genomes]
rs59727596	1.00[AFR][1000 genomes]
rs60218056	1.00[AFR][1000 genomes]
rs6744208	0.91[AFR][1000 genomes]
rs72914588	0.91[AFR][1000 genomes]
rs72914589	0.84[AFR][1000 genomes]
rs72914598	0.84[AFR][1000 genomes]
rs72916724	0.92[AFR][1000 genomes]
rs72916760	0.92[AFR][1000 genomes]
rs72916779	0.85[AFR][1000 genomes]
rs72916789	0.85[AFR][1000 genomes]
rs72918903	1.00[AFR][1000 genomes]
rs72918908	1.00[AFR][1000 genomes]
rs72918925	1.00[AFR][1000 genomes]
rs72918936	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3502708	chr2:55481350-55506212	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3502709	chr2:55481350-55506212	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv525025	chr2:55483020-55505456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
3	chr2:55461800-55493400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
5	chr2:55462000-55493200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:55463000-55495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:55463800-55494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:55463800-55495600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:55465600-55494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:55466000-55493200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr2:55468200-55493400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:55468400-55493200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:55468400-55494400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:55468600-55494400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:55468800-55493600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:55468800-55494400	Strong transcription	Adipose Nuclei	Adipose
18	chr2:55468800-55494400	Strong transcription	Liver	Liver
19	chr2:55470800-55494200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:55472000-55495200	Weak transcription	Psoas Muscle	Psoas
21	chr2:55476000-55495400	Weak transcription	HUVEC	blood vessel
22	chr2:55476600-55495400	Weak transcription	Aorta	Aorta
23	chr2:55476600-55495400	Weak transcription	Fetal Heart	heart
24	chr2:55476600-55495600	Weak transcription	Esophagus	oesophagus
25	chr2:55476800-55495400	Weak transcription	Fetal Kidney	kidney
26	chr2:55478400-55493400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:55478400-55494800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:55478800-55494200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:55479000-55493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:55480000-55495400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:55480400-55495600	Weak transcription	Brain Substantia Nigra	brain
32	chr2:55481400-55495400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:55481400-55495400	Weak transcription	Fetal Lung	lung
34	chr2:55481600-55495400	Weak transcription	NHDF-Ad	bronchial
35	chr2:55482800-55494600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:55483000-55494400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:55483000-55494600	Strong transcription	Fetal Intestine Small	intestine
38	chr2:55483000-55494600	Strong transcription	Fetal Stomach	stomach
39	chr2:55483200-55494800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:55484000-55493400	Strong transcription	HepG2	liver
41	chr2:55484000-55493600	Strong transcription	Placenta	Placenta
42	chr2:55484600-55493400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:55484600-55493400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:55484600-55494400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:55484800-55494000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:55484800-55494400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:55485200-55494400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr2:55486200-55493600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:55486400-55493400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:55486600-55494800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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