Variant report

Variant	rs4768890
Chromosome Location	chr12:50950695-50950696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50950342..50953589-chr12:50956085..50960023,3	MCF-7	breast:
2	chr12:50941295..50944235-chr12:50949790..50952600,2	MCF-7	breast:
3	chr12:50923171..50925845-chr12:50949350..50951662,2	K562	blood:
4	chr12:50941126..50942915-chr12:50949632..50951305,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10431486	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10444547	0.80[EUR][1000 genomes]
rs10459233	0.86[EUR][1000 genomes]
rs10747584	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10747585	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783369	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783370	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783371	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783372	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783373	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783374	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783378	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783381	0.81[EUR][1000 genomes]
rs10876042	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876043	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876047	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876051	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876052	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876053	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876056	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876058	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876060	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876061	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876063	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876065	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876067	0.80[ASN][1000 genomes]
rs10876070	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876071	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876072	0.81[EUR][1000 genomes]
rs10876073	0.80[EUR][1000 genomes]
rs11169457	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11169479	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169480	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169481	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169483	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169487	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169493	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169498	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169505	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11169507	0.81[EUR][1000 genomes]
rs11613488	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12230242	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12582712	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12827022	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34867510	0.86[EUR][1000 genomes]
rs3893353	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3935869	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4131769	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238106	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4516034	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768850	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768852	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768853	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768884	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768888	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768889	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768892	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768893	0.89[EUR][1000 genomes]
rs4768895	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768899	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55680342	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55877451	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7134976	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7138604	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307419	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7956591	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs952318	0.80[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	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	chr12:50927400-50951000	Weak transcription	Dnd41	blood
4	chr12:50927400-50961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:50927600-50957200	Weak transcription	Spleen	Spleen
6	chr12:50927800-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:50932000-50957800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:50932000-50958000	Weak transcription	Adipose Nuclei	Adipose
9	chr12:50932200-50961800	Weak transcription	Right Ventricle	heart
10	chr12:50933000-50952400	Weak transcription	Primary B cells from cord blood	blood
11	chr12:50936800-50962000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:50938000-50951200	Weak transcription	Fetal Stomach	stomach
13	chr12:50940000-50951000	Weak transcription	NHLF	lung
14	chr12:50940000-50956400	Weak transcription	Psoas Muscle	Psoas
15	chr12:50940000-50961400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:50940400-50961800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:50940600-50955200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:50940800-50957000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:50940800-50962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:50941000-50951000	Weak transcription	Osteobl	bone
21	chr12:50941000-50957400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:50941000-50961800	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:50941000-50962000	Weak transcription	Brain Germinal Matrix	brain
24	chr12:50941000-50963000	Weak transcription	HSMMtube	muscle
25	chr12:50941800-50957000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:50943800-50956200	Weak transcription	Colonic Mucosa	Colon
27	chr12:50944400-50962000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:50944600-50961800	Weak transcription	Small Intestine	intestine
29	chr12:50944800-50950800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:50944800-50953000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:50944800-50956200	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:50944800-50956600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:50944800-50961800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:50945200-50965200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:50945400-50961800	Weak transcription	Esophagus	oesophagus
36	chr12:50945600-50957000	Weak transcription	Lung	lung
37	chr12:50945600-50958800	Weak transcription	Ovary	ovary
38	chr12:50945800-50956800	Weak transcription	GM12878-XiMat	blood
39	chr12:50947200-50954200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:50947200-50961800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:50947400-50951000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:50947400-50958800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:50947600-50952200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:50947600-50957800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:50948200-50952400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:50948200-50952600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:50948200-50952800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:50948400-50966000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:50948800-50951000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:50948800-50961400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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