Variant report

Variant	rs73181982
Chromosome Location	chr2:11604797-11604798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11483291..11485571-chr2:11604286..11606431,2	MCF-7	breast:
2	chr2:11292916..11295580-chr2:11604494..11607840,3	MCF-7	breast:
3	chr2:11604255..11606398-chr2:11886112..11888104,2	K562	blood:
4	chr2:11604369..11605890-chr2:11610890..11612437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162976	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58483074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73180184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181956	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181959	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181960	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181962	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181974	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181980	1.00[EUR][1000 genomes]
rs7588248	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11579000-11604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:11587200-11605400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:11587400-11605200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:11587600-11605400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:11589000-11604800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:11589200-11605400	Weak transcription	Thymus	Thymus
7	chr2:11589400-11605400	Weak transcription	Fetal Kidney	kidney
8	chr2:11589600-11605400	Weak transcription	Esophagus	oesophagus
9	chr2:11590200-11604800	Weak transcription	Primary B cells from cord blood	blood
10	chr2:11590200-11605400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:11593400-11605400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:11593800-11605000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:11593800-11605200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:11594000-11605000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:11594000-11605200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:11594200-11605000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:11594200-11605000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:11594600-11604800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:11595200-11605000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:11595600-11605200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:11596800-11604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:11596800-11604800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:11597000-11604800	Weak transcription	Fetal Thymus	thymus
24	chr2:11597000-11605000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:11597000-11605200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:11597000-11605200	Weak transcription	NH-A	brain
27	chr2:11598800-11604800	Weak transcription	Stomach Mucosa	stomach
28	chr2:11599200-11604800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:11599600-11605200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:11599600-11605200	Weak transcription	HSMMtube	muscle
31	chr2:11599600-11605400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:11600400-11605200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:11601800-11605400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:11602000-11605400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:11602200-11605400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:11602400-11604800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:11602600-11604800	Transcr. at gene 5' and 3'	HepG2	liver
38	chr2:11602600-11605200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr2:11603000-11604800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:11603000-11604800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:11603000-11605000	Weak transcription	HSMM	muscle
42	chr2:11603000-11605200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:11603200-11605000	Enhancers	Brain Anterior Caudate	brain
44	chr2:11603200-11605000	Genic enhancers	Osteobl	bone
45	chr2:11603200-11605600	Enhancers	Spleen	Spleen
46	chr2:11603400-11604800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:11603400-11604800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:11603400-11604800	Enhancers	Hela-S3	cervix
49	chr2:11603400-11605200	Weak transcription	Primary T cells from cord blood	blood
50	chr2:11603600-11605000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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