Variant report

Variant	rs12483793
Chromosome Location	chr22:28319511-28319512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28319328..28321084-chr22:28324266..28326016,2	MCF-7	breast:
2	chr1:114236180..114238815-chr22:28319168..28321227,2	MCF-7	breast:
3	chr22:28309477..28311651-chr22:28318341..28320072,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSCB-1	chr22:28318007-28321384	NONHSAT084606

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

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

rs_ID	r²[population]
rs12484349	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985722	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16985863	0.80[EUR][1000 genomes]
rs2267128	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2294818	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8138623	0.85[EUR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28316200-28326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:28316200-28328400	Weak transcription	Aorta	Aorta
3	chr22:28316200-28337400	Weak transcription	Ovary	ovary
4	chr22:28316400-28320400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr22:28316400-28321400	Weak transcription	Spleen	Spleen
6	chr22:28316400-28322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:28316400-28322400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr22:28316400-28322600	Weak transcription	HSMMtube	muscle
9	chr22:28316400-28326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:28316400-28326400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:28316400-28326400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:28316400-28326400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr22:28316400-28326600	Weak transcription	Right Ventricle	heart
14	chr22:28316400-28327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:28316400-28328200	Weak transcription	Left Ventricle	heart
16	chr22:28316400-28329000	Weak transcription	Pancreas	Pancrea
17	chr22:28316400-28329000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr22:28316400-28335000	Weak transcription	Colonic Mucosa	Colon
19	chr22:28316400-28336800	Weak transcription	Fetal Muscle Leg	muscle
20	chr22:28316400-28342600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:28316400-28358600	Weak transcription	Placenta	Placenta
22	chr22:28316400-28370200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr22:28316400-28376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:28316400-28378000	Weak transcription	Esophagus	oesophagus
25	chr22:28316600-28320000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr22:28316600-28323200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr22:28316600-28325400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr22:28316600-28328600	Weak transcription	Stomach Mucosa	stomach
29	chr22:28316600-28348400	Weak transcription	Brain Substantia Nigra	brain
30	chr22:28316800-28320400	Weak transcription	Primary B cells from cord blood	blood
31	chr22:28316800-28320400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr22:28316800-28320400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:28316800-28320600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr22:28316800-28322400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr22:28316800-28325400	Weak transcription	Psoas Muscle	Psoas
36	chr22:28316800-28325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:28316800-28326600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:28316800-28329000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr22:28316800-28333800	Weak transcription	Brain Hippocampus Middle	brain
40	chr22:28316800-28336600	Weak transcription	Fetal Intestine Large	intestine
41	chr22:28316800-28340400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr22:28317000-28320000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:28317000-28320000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr22:28317000-28321200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr22:28317000-28322000	Weak transcription	NH-A	brain
46	chr22:28317000-28322800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr22:28317000-28323800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr22:28317000-28325400	Weak transcription	HMEC	breast
49	chr22:28317000-28325800	Weak transcription	NHEK	skin
50	chr22:28317000-28326000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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