Variant report

Variant	rs73946823
Chromosome Location	chr2:73490302-73490303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73490197..73492656-chr2:73518691..73521201,2	K562	blood:
2	chr2:73490276..73491860-chr2:73509698..73512234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163013	Chromatin interaction
ENSG00000135625	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73944224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73945001	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013190	chr2:73489679-73572643	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73464800-73495800	Weak transcription	Right Atrium	heart
2	chr2:73471600-73493600	Strong transcription	Fetal Brain Female	brain
3	chr2:73477200-73494000	Weak transcription	Fetal Brain Male	brain
4	chr2:73480200-73494400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:73480400-73490600	Weak transcription	Hela-S3	cervix
6	chr2:73481400-73492800	Weak transcription	Colonic Mucosa	Colon
7	chr2:73481600-73493800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:73481600-73495600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:73481600-73495600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:73481800-73493200	Weak transcription	HSMM	muscle
11	chr2:73481800-73510000	Weak transcription	K562	blood
12	chr2:73482000-73492400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:73482000-73492600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:73482000-73492600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:73482000-73493400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:73482000-73495400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:73482200-73493000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:73482400-73491200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:73482400-73493400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:73482400-73493600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:73482400-73495600	Weak transcription	A549	lung
22	chr2:73482600-73493400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:73482600-73493600	Weak transcription	Fetal Intestine Large	intestine
24	chr2:73482600-73494200	Weak transcription	Esophagus	oesophagus
25	chr2:73482800-73495600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:73482800-73499200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:73483000-73490400	Weak transcription	Ovary	ovary
28	chr2:73483000-73494000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:73483200-73494000	Weak transcription	NHEK	skin
30	chr2:73483200-73495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:73483200-73495600	Weak transcription	Lung	lung
32	chr2:73483400-73495600	Weak transcription	HMEC	breast
33	chr2:73483600-73490600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:73483600-73493600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:73483800-73493400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:73484000-73490600	Weak transcription	Brain Anterior Caudate	brain
37	chr2:73484800-73495600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:73485200-73491200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:73485200-73499800	Strong transcription	Dnd41	blood
40	chr2:73485400-73491800	Strong transcription	Primary T cells from cord blood	blood
41	chr2:73485400-73494400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:73485400-73495200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:73485400-73495600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:73485400-73496000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:73485600-73494000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:73485600-73495800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:73485800-73492400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:73486000-73501400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:73486200-73490600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:73486400-73491800	Weak transcription	Fetal Stomach	stomach

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