Variant report

Variant	rs73995943
Chromosome Location	chr2:234320983-234320984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234316557..234318837-chr2:234319692..234322100,2	MCF-7	breast:
2	chr2:234320676..234323507-chr2:234330970..234332948,2	MCF-7	breast:
3	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56836072	1.00[AFR][1000 genomes]
rs58963596	0.95[AFR][1000 genomes]
rs60732790	0.86[AFR][1000 genomes]
rs6709877	0.86[AFR][1000 genomes]
rs6732036	1.00[AFR][1000 genomes]
rs73995925	1.00[AFR][1000 genomes]
rs73995926	1.00[AFR][1000 genomes]
rs73995952	0.95[AFR][1000 genomes]
rs73995953	0.95[AFR][1000 genomes]
rs73995954	0.95[AFR][1000 genomes]
rs73996123	0.80[AFR][1000 genomes]
rs73996126	0.80[AFR][1000 genomes]
rs73997605	0.86[AFR][1000 genomes]
rs73997609	0.91[AFR][1000 genomes]
rs73997632	0.91[AFR][1000 genomes]
rs73997636	0.91[AFR][1000 genomes]
rs7562104	0.91[AFR][1000 genomes]
rs7588587	0.80[AFR][1000 genomes]
rs7594222	1.00[AFR][1000 genomes]
rs7599218	1.00[AFR][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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:234277600-234322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:234297200-234322000	Weak transcription	Hela-S3	cervix
4	chr2:234297200-234322200	Weak transcription	Brain Anterior Caudate	brain
5	chr2:234308400-234322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:234308800-234328400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:234309400-234322000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:234309600-234322200	Weak transcription	Esophagus	oesophagus
9	chr2:234312600-234327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:234316600-234322000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:234317000-234327400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:234317200-234327400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:234317600-234321200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:234317600-234322200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:234317600-234322200	Weak transcription	Fetal Stomach	stomach
16	chr2:234317600-234322400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:234317800-234322200	Weak transcription	Ovary	ovary
18	chr2:234317800-234322200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:234317800-234322800	Weak transcription	Gastric	stomach
20	chr2:234317800-234327400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:234318800-234321200	Weak transcription	Osteobl	bone
22	chr2:234318800-234321400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr2:234318800-234322200	Weak transcription	Aorta	Aorta
24	chr2:234319000-234321400	ZNF genes & repeats	GM12878-XiMat	blood
25	chr2:234319000-234321600	ZNF genes & repeats	A549	lung
26	chr2:234319000-234322800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:234319200-234321600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:234319200-234321800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:234319200-234321800	Weak transcription	Colonic Mucosa	Colon
30	chr2:234319200-234321800	Weak transcription	Small Intestine	intestine
31	chr2:234319200-234322200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:234319200-234322200	Weak transcription	Placenta	Placenta
33	chr2:234319200-234322200	Weak transcription	Lung	lung
34	chr2:234319200-234322200	Weak transcription	Pancreas	Pancrea
35	chr2:234319200-234322600	Weak transcription	Right Atrium	heart
36	chr2:234319200-234322800	Weak transcription	Left Ventricle	heart
37	chr2:234319200-234322800	Weak transcription	Spleen	Spleen
38	chr2:234319200-234326000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr2:234319200-234326400	Weak transcription	Fetal Thymus	thymus
40	chr2:234319200-234326800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:234319200-234326800	Weak transcription	Thymus	Thymus
42	chr2:234319400-234321600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:234319400-234321600	ZNF genes & repeats	HepG2	liver
44	chr2:234319400-234322200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:234319600-234322200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:234319600-234322600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:234319600-234322800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:234319600-234322800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:234319600-234322800	Weak transcription	Fetal Intestine Large	intestine
50	chr2:234319800-234321200	ZNF genes & repeats	Primary B cells from cord blood	blood

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