Variant report

Variant	rs73830443
Chromosome Location	chr3:45657974-45657975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:45636050..45637739-chr3:45656173..45658112,2	MCF-7	breast:
2	chr3:45649395..45652314-chr3:45657354..45660901,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144791	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13316599	1.00[AMR][1000 genomes]
rs56404048	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57013034	1.00[AMR][1000 genomes]
rs58213273	0.83[AMR][1000 genomes]
rs6778381	0.83[AMR][1000 genomes]
rs6780893	0.83[AMR][1000 genomes]
rs72882544	0.83[AMR][1000 genomes]
rs73830463	1.00[AMR][1000 genomes]
rs9827350	0.83[AMR][1000 genomes]
rs9850601	0.83[AMR][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	esv34130	chr3:45609075-45796657	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45642200-45705800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:45643000-45673000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr3:45646200-45676200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:45646600-45662200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:45646800-45659200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:45647600-45660400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:45649800-45660000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:45649800-45661800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:45649800-45675600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:45650000-45658000	Weak transcription	HUVEC	blood vessel
11	chr3:45650200-45659800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:45651200-45677600	Weak transcription	Fetal Intestine Large	intestine
13	chr3:45651400-45669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:45651600-45659600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:45652000-45659600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr3:45652000-45668600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:45652200-45672200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:45653000-45658000	Enhancers	Fetal Muscle Leg	muscle
19	chr3:45653200-45682000	Weak transcription	Esophagus	oesophagus
20	chr3:45653400-45659000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:45653400-45666400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:45653400-45672800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:45653400-45672800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:45653600-45658000	Weak transcription	Gastric	stomach
25	chr3:45653600-45659000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:45653600-45659400	Weak transcription	Lung	lung
27	chr3:45653600-45659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:45653600-45659600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:45653800-45658000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:45653800-45658800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:45653800-45658800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:45653800-45659000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:45653800-45659000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:45653800-45677400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:45654000-45659200	Weak transcription	Spleen	Spleen
36	chr3:45654000-45672800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:45654600-45659400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr3:45654800-45658000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr3:45654800-45669600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:45655000-45658600	Weak transcription	Primary T cells from cord blood	blood
41	chr3:45655000-45659000	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:45655000-45659000	Weak transcription	Hela-S3	cervix
43	chr3:45655000-45659800	Weak transcription	NHEK	skin
44	chr3:45655000-45666400	Weak transcription	K562	blood
45	chr3:45655000-45677400	Weak transcription	NH-A	brain
46	chr3:45655400-45660000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:45655400-45676800	Weak transcription	HSMM	muscle
48	chr3:45655600-45658000	Enhancers	A549	lung
49	chr3:45655600-45658800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:45655600-45659600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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