Variant report

Variant	rs41289586
Chromosome Location	chr3:43618558-43618559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43617333..43620102-chr3:43732298..43734230,2	MCF-7	breast:
2	chr3:43616819..43619453-chr3:43755393..43757894,2	K562	blood:
3	chr3:43615192..43616711-chr3:43617369..43619763,2	K562	blood:

Variant related genes	Relation type
ENSG00000160746	Chromatin interaction
ENSG00000011198	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs62250911	1.00[AFR][1000 genomes]
rs62250916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62250949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62250950	1.00[AFR][1000 genomes]
rs62250952	1.00[AFR][1000 genomes]
rs62252988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62253029	1.00[AFR][1000 genomes]
rs62253043	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	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43556200-43624800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:43558600-43625600	Weak transcription	Lung	lung
3	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
4	chr3:43576200-43623800	Weak transcription	Psoas Muscle	Psoas
5	chr3:43576400-43621200	Weak transcription	NHEK	skin
6	chr3:43577600-43625400	Weak transcription	HUVEC	blood vessel
7	chr3:43580600-43647600	Weak transcription	Brain Angular Gyrus	brain
8	chr3:43584000-43632800	Weak transcription	Small Intestine	intestine
9	chr3:43585600-43624400	Weak transcription	Fetal Lung	lung
10	chr3:43587000-43647200	Weak transcription	Fetal Kidney	kidney
11	chr3:43587200-43632000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:43587800-43634000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:43589000-43648400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:43589600-43625600	Weak transcription	Brain Substantia Nigra	brain
15	chr3:43590600-43636400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr3:43593000-43624800	Weak transcription	NH-A	brain
17	chr3:43595000-43626000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:43595000-43632600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:43595800-43632800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:43596400-43621800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:43596600-43632000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:43596600-43632600	Weak transcription	HSMMtube	muscle
23	chr3:43597200-43625800	Weak transcription	Spleen	Spleen
24	chr3:43597200-43628800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:43601600-43631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:43602000-43624400	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:43602000-43632600	Weak transcription	Esophagus	oesophagus
28	chr3:43602600-43625000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:43602600-43625600	Weak transcription	Pancreas	Pancrea
30	chr3:43602600-43632800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:43602800-43624400	Weak transcription	HSMM	muscle
32	chr3:43607600-43627000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:43611400-43625400	Weak transcription	A549	lung
34	chr3:43613600-43618800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:43614000-43621200	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:43614000-43632600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:43614000-43632600	Weak transcription	Fetal Intestine Small	intestine
38	chr3:43614400-43632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:43614400-43632600	Weak transcription	Gastric	stomach
40	chr3:43614600-43653800	Weak transcription	HepG2	liver
41	chr3:43614800-43624400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:43615200-43620000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr3:43615800-43625000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:43616200-43619400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:43616200-43621400	Weak transcription	HMEC	breast
46	chr3:43616200-43622200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:43616400-43618600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:43616400-43619400	Strong transcription	K562	blood
49	chr3:43616400-43619600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:43616400-43625800	Weak transcription	Hela-S3	cervix

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