Variant report

Variant	rs2436646
Chromosome Location	chr12:51560126-51560127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51557800..51560550-chr12:51563372..51565178,2	K562	blood:
2	chr12:51557800..51560128-chr12:51563372..51565944,2	K562	blood:
3	chr12:51557818..51560220-chr12:51566523..51568651,2	K562	blood:

Variant related genes	Relation type
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10783414	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783416	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10783417	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10783418	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10876143	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876146	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11613085	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1565721	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1984544	0.86[ASN][1000 genomes]
rs1985457	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2029686	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2436645	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2436647	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2640511	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2640516	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2640521	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2640523	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2640527	0.86[ASN][1000 genomes]
rs2730646	0.82[AMR][1000 genomes]
rs2730647	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2730648	0.86[ASN][1000 genomes]
rs2730650	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730654	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2956428	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3110188	0.82[ASN][1000 genomes]
rs6580799	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6580800	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6580801	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6580803	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6580804	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7306522	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7959378	0.88[AMR][1000 genomes];0.96[EUR][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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	esv2762980	chr12:51527963-51561056	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
2	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
4	chr12:51519000-51561600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:51519000-51565000	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:51519000-51565200	Weak transcription	Left Ventricle	heart
7	chr12:51519000-51565200	Weak transcription	Pancreas	Pancrea
8	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
9	chr12:51519200-51563800	Weak transcription	Fetal Brain Female	brain
10	chr12:51519200-51565000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:51519400-51565200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:51521600-51565200	Weak transcription	HSMM	muscle
13	chr12:51527400-51565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:51530600-51564200	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:51531200-51563400	Weak transcription	Hela-S3	cervix
16	chr12:51532000-51565000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:51532400-51564000	Weak transcription	Primary T cells from cord blood	blood
18	chr12:51532600-51562000	Weak transcription	Ovary	ovary
19	chr12:51532600-51562800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:51532600-51564800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:51532600-51565200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:51532800-51563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:51533000-51563200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:51533200-51561400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:51533200-51561400	Weak transcription	Placenta	Placenta
26	chr12:51533200-51564800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:51533400-51560200	Weak transcription	Dnd41	blood
28	chr12:51533600-51564800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:51533600-51565000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:51534600-51564200	Weak transcription	Fetal Intestine Large	intestine
31	chr12:51539600-51565000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:51539800-51561000	Weak transcription	Aorta	Aorta
33	chr12:51540000-51560200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:51540800-51564800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:51541000-51560200	Weak transcription	Primary B cells from cord blood	blood
36	chr12:51543200-51565200	Weak transcription	Psoas Muscle	Psoas
37	chr12:51545000-51564200	Weak transcription	Brain Germinal Matrix	brain
38	chr12:51545000-51565000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:51545000-51565000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:51550200-51563200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:51550400-51565400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:51550600-51560200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:51550800-51560200	Weak transcription	NHEK	skin
44	chr12:51550800-51564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:51551400-51562400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:51552200-51563600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:51552400-51565000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:51553200-51565000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:51554000-51563400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:51554400-51565000	Weak transcription	HUVEC	blood vessel

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