Variant report

Variant	rs73984343
Chromosome Location	chr2:211027427-211027428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:211024722..211030637-chr2:211032181..211037580,16	K562	blood:
2	chr2:210987015..210989991-chr2:211026945..211028586,2	K562	blood:
3	chr2:211024842..211031528-chr2:211032039..211037580,15	K562	blood:
4	chr2:211023655..211025185-chr2:211026061..211027741,2	MCF-7	breast:
5	chr2:211026613..211029072-chr2:211033782..211036187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263530	Chromatin interaction
ENSG00000231294	Chromatin interaction
ENSG00000144445	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56301246	1.00[AMR][1000 genomes]
rs56839181	1.00[AMR][1000 genomes]
rs57873720	1.00[AMR][1000 genomes]
rs60728418	1.00[AMR][1000 genomes]
rs60760690	1.00[AMR][1000 genomes]
rs6739874	1.00[AMR][1000 genomes]
rs6745814	1.00[AMR][1000 genomes]
rs73984331	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984335	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984336	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984340	1.00[AMR][1000 genomes]
rs73984345	1.00[AMR][1000 genomes]
rs73984346	1.00[AMR][1000 genomes]
rs73984351	1.00[AMR][1000 genomes]
rs73984352	1.00[AMR][1000 genomes]
rs73984374	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv875766	chr2:210996084-211033176	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211002200-211031400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:211006200-211032000	Weak transcription	HUVEC	blood vessel
3	chr2:211008000-211032000	Weak transcription	HSMM	muscle
4	chr2:211010200-211034600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:211010800-211030800	Weak transcription	Esophagus	oesophagus
6	chr2:211010800-211033200	Weak transcription	Fetal Brain Male	brain
7	chr2:211010800-211034400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:211011000-211031200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:211011000-211032800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:211011000-211032800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:211011000-211033800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:211011000-211033800	Weak transcription	Ovary	ovary
13	chr2:211013200-211034000	Weak transcription	Primary B cells from cord blood	blood
14	chr2:211015600-211033800	Weak transcription	Fetal Stomach	stomach
15	chr2:211016600-211031400	Weak transcription	Hela-S3	cervix
16	chr2:211018600-211033000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:211018800-211034200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:211019000-211031800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:211019000-211033200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:211019200-211027600	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:211019200-211031200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:211019200-211031200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:211019200-211032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:211019200-211032800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:211019200-211033000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:211019200-211033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:211019200-211034400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:211019400-211031200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:211019400-211031800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:211019400-211032600	Weak transcription	Brain Anterior Caudate	brain
31	chr2:211019400-211033200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:211019400-211033200	Weak transcription	Brain Germinal Matrix	brain
33	chr2:211019400-211033200	Weak transcription	HSMMtube	muscle
34	chr2:211019400-211033400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:211019400-211033600	Weak transcription	Fetal Brain Female	brain
36	chr2:211019600-211032200	Weak transcription	Dnd41	blood
37	chr2:211019600-211033200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:211019800-211033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:211020000-211027600	Weak transcription	Left Ventricle	heart
40	chr2:211020000-211031400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:211020000-211032800	Weak transcription	Thymus	Thymus
42	chr2:211020400-211030400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:211020400-211031600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:211022200-211032000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:211022400-211034800	Weak transcription	Pancreas	Pancrea
46	chr2:211022600-211027600	Weak transcription	Fetal Intestine Small	intestine
47	chr2:211023000-211033600	Weak transcription	Fetal Thymus	thymus
48	chr2:211023200-211033800	Weak transcription	Psoas Muscle	Psoas
49	chr2:211024200-211030600	Weak transcription	Fetal Lung	lung
50	chr2:211026000-211027800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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