Variant report

Variant	rs71452928
Chromosome Location	chr12:107259529-107259530
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:107252039..107256834-chr12:107259253..107262370,5	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12827304	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12833344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34956441	1.00[ASN][1000 genomes]
rs71452919	1.00[ASN][1000 genomes]
rs71452921	1.00[ASN][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	nsv9005	chr12:107019233-107367130	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948746	chr12:107205413-107949265	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:107199600-107283800	Weak transcription	Hela-S3	cervix
2	chr12:107209200-107275000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:107209200-107275000	Weak transcription	Spleen	Spleen
4	chr12:107209600-107263400	Weak transcription	Lung	lung
5	chr12:107209600-107277200	Weak transcription	Gastric	stomach
6	chr12:107210200-107275800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:107211800-107279800	Weak transcription	Placenta	Placenta
8	chr12:107226000-107280400	Weak transcription	Right Ventricle	heart
9	chr12:107227200-107275000	Weak transcription	Esophagus	oesophagus
10	chr12:107231600-107291200	Weak transcription	Fetal Brain Male	brain
11	chr12:107234400-107274200	Weak transcription	Psoas Muscle	Psoas
12	chr12:107234400-107291600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:107234800-107259600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:107236000-107260000	Weak transcription	HSMMtube	muscle
15	chr12:107236000-107279800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:107238400-107275200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:107239600-107272800	Weak transcription	K562	blood
18	chr12:107239800-107273600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:107239800-107284200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:107240000-107264600	Weak transcription	NHEK	skin
21	chr12:107240200-107273600	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:107241800-107280200	Weak transcription	HUVEC	blood vessel
23	chr12:107242400-107265400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:107242600-107280400	Weak transcription	Fetal Brain Female	brain
25	chr12:107243800-107287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:107244000-107286000	Weak transcription	Pancreas	Pancrea
27	chr12:107244200-107261400	Weak transcription	Fetal Stomach	stomach
28	chr12:107244200-107280000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:107247600-107269200	Strong transcription	Dnd41	blood
30	chr12:107248000-107276600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:107249200-107289600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:107249400-107277600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:107249400-107286000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:107249600-107279800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:107249600-107292000	Weak transcription	Small Intestine	intestine
36	chr12:107251200-107292000	Weak transcription	Brain Substantia Nigra	brain
37	chr12:107253400-107264200	Strong transcription	Primary T cells from cord blood	blood
38	chr12:107254200-107266400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:107254400-107264800	Weak transcription	HMEC	breast
40	chr12:107254600-107261800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:107255000-107266200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:107255000-107280000	Weak transcription	Colonic Mucosa	Colon
43	chr12:107255000-107283400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:107255200-107261400	Weak transcription	Fetal Lung	lung
45	chr12:107255200-107262000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:107255200-107268000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:107255200-107272800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:107255200-107281800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:107255200-107284600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:107255400-107259600	Weak transcription	Aorta	Aorta

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