Variant report

Variant	rs57291280
Chromosome Location	chr12:44146799-44146800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44146753..44148774-chr12:44151171..44153252,2	K562	blood:
2	chr12:44145866..44148336-chr12:44151544..44154381,4	MCF-7	breast:
3	chr12:44143073..44149154-chr12:44149201..44155670,10	K562	blood:

Variant related genes	Relation type
ENSG00000198001	Chromatin interaction
ENSG00000129317	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12305949	1.00[ASN][1000 genomes]
rs12318086	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17093639	0.83[AFR][1000 genomes]
rs4251429	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4251447	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4251481	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4251488	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4251522	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4251527	0.89[ASN][1000 genomes]
rs9971859	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971895	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44117400-44151400	Weak transcription	Brain Substantia Nigra	brain
2	chr12:44119800-44147000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:44120000-44151600	Weak transcription	Gastric	stomach
4	chr12:44120200-44151600	Weak transcription	Lung	lung
5	chr12:44122000-44147400	Weak transcription	Psoas Muscle	Psoas
6	chr12:44122600-44147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:44122600-44152000	Weak transcription	Left Ventricle	heart
8	chr12:44122800-44151000	Weak transcription	Fetal Brain Male	brain
9	chr12:44123400-44151600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:44123600-44151400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:44125000-44151400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:44125000-44151400	Weak transcription	HUVEC	blood vessel
13	chr12:44126200-44150400	Weak transcription	Small Intestine	intestine
14	chr12:44126400-44151600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:44126400-44151600	Weak transcription	Colonic Mucosa	Colon
16	chr12:44126400-44151600	Weak transcription	Right Ventricle	heart
17	chr12:44126600-44147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:44127200-44151600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:44128600-44151600	Weak transcription	Spleen	Spleen
20	chr12:44128800-44151400	Weak transcription	Brain Angular Gyrus	brain
21	chr12:44130400-44150200	Weak transcription	Stomach Mucosa	stomach
22	chr12:44130600-44151000	Weak transcription	Pancreas	Pancrea
23	chr12:44130600-44151400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:44130600-44151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:44130600-44151600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:44130600-44151800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:44130800-44147800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:44131000-44151400	Weak transcription	Hela-S3	cervix
29	chr12:44131000-44151600	Weak transcription	Thymus	Thymus
30	chr12:44131800-44147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:44132600-44151400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:44133200-44151600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:44135000-44151400	Weak transcription	Fetal Stomach	stomach
34	chr12:44136400-44151400	Weak transcription	Fetal Heart	heart
35	chr12:44136400-44151600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:44137000-44151600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:44137000-44151600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:44137200-44147000	Weak transcription	K562	blood
39	chr12:44137200-44151400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:44139400-44147200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:44139400-44151600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:44139600-44147400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:44139600-44147400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:44139600-44148000	Weak transcription	Fetal Lung	lung
45	chr12:44139600-44150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:44139600-44151200	Weak transcription	NHLF	lung
47	chr12:44139600-44151400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:44139600-44151400	Weak transcription	Fetal Intestine Large	intestine
49	chr12:44139600-44151400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:44139600-44151600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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