Variant report

Variant	rs12099439
Chromosome Location	chr12:50948473-50948474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50947177..50949740-chr17:57920618..57922816,2	MCF-7	breast:
2	chr12:50947257..50949279-chr12:50958735..50961611,2	K562	blood:
3	chr12:50946904..50948788-chr12:50951003..50952893,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10783360	1.00[AMR][1000 genomes]
rs12321739	1.00[AMR][1000 genomes]
rs12367373	1.00[AMR][1000 genomes]
rs4491331	1.00[AMR][1000 genomes]
rs4617660	1.00[AMR][1000 genomes]
rs7309410	1.00[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	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:50927200-50957600	Weak transcription	Fetal Lung	lung
3	chr12:50927400-50948800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:50927400-50951000	Weak transcription	Dnd41	blood
5	chr12:50927400-50961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:50927600-50950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:50927600-50957200	Weak transcription	Spleen	Spleen
8	chr12:50927800-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:50930600-50948600	Weak transcription	Left Ventricle	heart
10	chr12:50932000-50957800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:50932000-50958000	Weak transcription	Adipose Nuclei	Adipose
12	chr12:50932200-50948600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:50932200-50961800	Weak transcription	Right Ventricle	heart
14	chr12:50932400-50949000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:50933000-50952400	Weak transcription	Primary B cells from cord blood	blood
16	chr12:50936800-50962000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:50938000-50951200	Weak transcription	Fetal Stomach	stomach
18	chr12:50940000-50951000	Weak transcription	NHLF	lung
19	chr12:50940000-50956400	Weak transcription	Psoas Muscle	Psoas
20	chr12:50940000-50961400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:50940400-50961800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:50940600-50949400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:50940600-50949800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:50940600-50949800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:50940600-50955200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:50940800-50957000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:50940800-50962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:50941000-50949000	Weak transcription	Brain Angular Gyrus	brain
29	chr12:50941000-50949400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:50941000-50949400	Weak transcription	Hela-S3	cervix
31	chr12:50941000-50951000	Weak transcription	Osteobl	bone
32	chr12:50941000-50957400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:50941000-50961800	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:50941000-50962000	Weak transcription	Brain Germinal Matrix	brain
35	chr12:50941000-50963000	Weak transcription	HSMMtube	muscle
36	chr12:50941200-50949200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:50941200-50949200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:50941800-50949000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:50941800-50957000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:50943200-50948800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:50943800-50956200	Weak transcription	Colonic Mucosa	Colon
42	chr12:50944400-50962000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:50944600-50949000	Weak transcription	A549	lung
44	chr12:50944600-50961800	Weak transcription	Small Intestine	intestine
45	chr12:50944800-50948800	Weak transcription	Fetal Intestine Small	intestine
46	chr12:50944800-50950800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:50944800-50953000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:50944800-50956200	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:50944800-50956600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:50944800-50961800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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