Variant report

Variant	rs73285631
Chromosome Location	chr12:42717641-42717642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42630581..42632543-chr12:42717454..42720310,3	MCF-7	breast:
2	chr12:42716506..42718014-chr12:42719269..42721184,2	MCF-7	breast:
3	chr12:42536329..42538308-chr12:42715319..42718014,2	K562	blood:
4	chr12:42536402..42539877-chr12:42717128..42721445,5	MCF-7	breast:
5	chr12:42712772..42714529-chr12:42716332..42717954,2	K562	blood:
6	chr12:42537125..42540322-chr12:42717377..42722308,7	MCF-7	breast:
7	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:

Variant related genes	Relation type
ENSG00000015153	Chromatin interaction
ENSG00000151233	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000139168	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11829039	1.00[AMR][1000 genomes]
rs11832840	1.00[AMR][1000 genomes]
rs11833109	1.00[AMR][1000 genomes]
rs11837839	1.00[AMR][1000 genomes]
rs2406968	1.00[AMR][1000 genomes]
rs57647260	1.00[AMR][1000 genomes]
rs59190545	1.00[AMR][1000 genomes]
rs59645146	1.00[AMR][1000 genomes]
rs73270279	1.00[AMR][1000 genomes]
rs73270293	1.00[AMR][1000 genomes]
rs73272004	1.00[AMR][1000 genomes]
rs73272013	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272050	1.00[AMR][1000 genomes]
rs73272073	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273911	1.00[AMR][1000 genomes]
rs73281814	0.85[AFR][1000 genomes]
rs73281820	0.90[AFR][1000 genomes]
rs73281851	0.90[AFR][1000 genomes]
rs73281860	0.90[AFR][1000 genomes]
rs73283734	0.90[AFR][1000 genomes]
rs73283759	0.90[AFR][1000 genomes]
rs73283792	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283799	1.00[AMR][1000 genomes]
rs73285619	1.00[AMR][1000 genomes]
rs73285621	1.00[AMR][1000 genomes]
rs73285641	1.00[AMR][1000 genomes]
rs73285662	1.00[AMR][1000 genomes]
rs73285670	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42693600-42719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:42696200-42718800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:42697000-42718800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:42697400-42718000	Weak transcription	HepG2	liver
5	chr12:42699600-42718800	Weak transcription	HUVEC	blood vessel
6	chr12:42699800-42718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:42701200-42718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:42701800-42718600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:42701800-42718800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:42701800-42719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:42702200-42718600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:42702600-42718800	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:42703800-42718800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:42704200-42718400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:42705000-42718000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:42705200-42718600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:42705200-42718600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:42705200-42719000	Weak transcription	HSMMtube	muscle
19	chr12:42705400-42718400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:42705400-42719200	Weak transcription	Fetal Intestine Small	intestine
21	chr12:42705600-42719200	Weak transcription	Psoas Muscle	Psoas
22	chr12:42705600-42719400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:42705600-42719400	Weak transcription	Small Intestine	intestine
24	chr12:42705800-42718400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:42705800-42718600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:42705800-42719400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:42706000-42719400	Weak transcription	Aorta	Aorta
28	chr12:42706000-42719600	Weak transcription	Spleen	Spleen
29	chr12:42707000-42718600	Weak transcription	NHLF	lung
30	chr12:42707200-42718600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:42707600-42718600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:42707600-42718600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:42707800-42718400	Weak transcription	A549	lung
34	chr12:42707800-42718600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:42707800-42718600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:42707800-42718600	Weak transcription	HMEC	breast
37	chr12:42707800-42718800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:42707800-42718800	Weak transcription	NH-A	brain
39	chr12:42707800-42719200	Weak transcription	Right Ventricle	heart
40	chr12:42707800-42719400	Weak transcription	Colonic Mucosa	Colon
41	chr12:42708000-42718400	Weak transcription	NHEK	skin
42	chr12:42709000-42719400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:42709000-42719400	Weak transcription	Gastric	stomach
44	chr12:42709200-42718600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:42709400-42719400	Weak transcription	Esophagus	oesophagus
46	chr12:42709800-42718400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:42709800-42718600	Weak transcription	K562	blood
48	chr12:42710600-42718800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:42710800-42718600	Weak transcription	Brain Anterior Caudate	brain
50	chr12:42711000-42718400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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