Variant report

Variant	rs4768894
Chromosome Location	chr12:50960623-50960624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50947257..50949279-chr12:50958735..50961611,2	K562	blood:
2	chr12:50955217..50957805-chr12:50959389..50961152,2	MCF-7	breast:
3	chr12:50897008..50898547-chr12:50959691..50961906,2	MCF-7	breast:
4	chr12:50934973..50937892-chr12:50960114..50962930,2	MCF-7	breast:
5	chr12:50958807..50961087-chr12:50974320..50976145,2	K562	blood:
6	chr12:50959640..50961996-chr12:50963303..50966253,2	MCF-7	breast:
7	chr12:50957955..50959497-chr12:50959656..50962563,2	MCF-7	breast:
8	chr12:50960547..50963212-chr12:50977507..50979558,2	K562	blood:

No data

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10735826	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10783367	0.86[ASN][1000 genomes]
rs10783368	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876041	0.88[ASN][1000 genomes]
rs10876044	0.88[ASN][1000 genomes]
rs10876048	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876054	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876057	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11614911	0.88[ASN][1000 genomes]
rs12099615	0.94[ASN][1000 genomes]
rs12296379	0.91[AMR][1000 genomes]
rs12320201	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12817256	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13328926	0.88[ASN][1000 genomes]
rs1402693	0.81[ASN][1000 genomes]
rs1521515	0.83[AMR][1000 genomes]
rs1521517	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1996750	0.80[ASN][1000 genomes]
rs2252595	0.83[AMR][1000 genomes]
rs2684890	0.83[AMR][1000 genomes]
rs2684891	0.83[AMR][1000 genomes]
rs2684902	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2684906	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28414775	0.94[ASN][1000 genomes]
rs28479152	0.88[ASN][1000 genomes]
rs2947617	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4129355	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4306347	0.86[ASN][1000 genomes]
rs4517607	0.88[ASN][1000 genomes]
rs4562889	0.81[ASN][1000 genomes]
rs4768848	0.81[ASN][1000 genomes]
rs4768885	0.88[ASN][1000 genomes]
rs4768886	0.88[ASN][1000 genomes]
rs4768887	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56753963	0.91[ASN][1000 genomes]
rs57512759	0.88[ASN][1000 genomes]
rs59194948	0.91[ASN][1000 genomes]
rs59683461	0.94[ASN][1000 genomes]
rs60239257	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60494920	0.89[ASN][1000 genomes]
rs7131993	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7135222	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7301125	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7302749	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7306387	0.81[ASN][1000 genomes]
rs7487645	0.92[ASN][1000 genomes]
rs7953880	0.88[ASN][1000 genomes]
rs7955310	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7957060	0.83[ASN][1000 genomes]
rs7978443	0.88[ASN][1000 genomes]
rs7979184	0.88[ASN][1000 genomes]
rs9634264	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9738596	0.90[ASN][1000 genomes]
rs9804759	0.82[AMR][1000 genomes];0.83[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	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:92 , 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	chr12:50927400-50961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:50927800-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:50932200-50961800	Weak transcription	Right Ventricle	heart
5	chr12:50936800-50962000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:50940000-50961400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:50940400-50961800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:50940800-50962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:50941000-50961800	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:50941000-50962000	Weak transcription	Brain Germinal Matrix	brain
11	chr12:50941000-50963000	Weak transcription	HSMMtube	muscle
12	chr12:50944400-50962000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:50944600-50961800	Weak transcription	Small Intestine	intestine
14	chr12:50944800-50961800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:50945200-50965200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:50945400-50961800	Weak transcription	Esophagus	oesophagus
17	chr12:50947200-50961800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:50948400-50966000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:50948800-50961400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:50949400-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:50949400-50962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:50949400-50962000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:50949400-50973600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:50949800-50962000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:50949800-50962000	Weak transcription	Fetal Thymus	thymus
26	chr12:50950000-50961800	Weak transcription	Fetal Intestine Large	intestine
27	chr12:50951400-50961400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:50952000-50962000	Weak transcription	Fetal Intestine Small	intestine
29	chr12:50952000-50962000	Weak transcription	Fetal Stomach	stomach
30	chr12:50953400-50965600	Weak transcription	Primary B cells from cord blood	blood
31	chr12:50953800-50966000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:50956200-50961000	Weak transcription	Stomach Mucosa	stomach
33	chr12:50956600-50961800	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:50957200-50965600	Weak transcription	Psoas Muscle	Psoas
35	chr12:50957400-50961800	Weak transcription	Left Ventricle	heart
36	chr12:50957600-50961200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:50957600-50961800	Weak transcription	Lung	lung
38	chr12:50957600-50962000	Weak transcription	Colonic Mucosa	Colon
39	chr12:50957600-50962000	Enhancers	Hela-S3	cervix
40	chr12:50957600-50969200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:50958000-50962000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:50958200-50961400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:50958200-50961600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:50958200-50961800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:50958400-50961200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:50958400-50961800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:50958600-50960800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:50958600-50961600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:50958600-50961600	Weak transcription	Fetal Heart	heart
50	chr12:50958800-50961600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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