Variant report

Variant	rs912104
Chromosome Location	chr20:1280344-1280345
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1279418..1283217-chr20:1283449..1287758,5	K562	blood:
2	chr20:1196637..1198683-chr20:1279227..1282045,2	K562	blood:
3	chr20:1274563..1276619-chr20:1279112..1281898,2	K562	blood:
4	chr20:1272718..1276817-chr20:1277279..1280817,5	MCF-7	breast:
5	chr20:1271210..1274105-chr20:1276784..1280464,4	K562	blood:
6	chr20:1279250..1281881-chr20:1447982..1450441,2	K562	blood:

Variant related genes	Relation type
ENSG00000088833	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12624336	0.87[ASN][1000 genomes]
rs3764715	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3795140	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3795141	0.91[ASN][1000 genomes]
rs3795142	0.91[ASN][1000 genomes]
rs3818331	0.91[ASN][1000 genomes]
rs6078509	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6109320	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6134520	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs912108	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs966846	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1067360	chr20:1245753-1283508	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1067393	chr20:1254805-1302796	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv912588	chr20:1269588-1300456	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv912589	chr20:1272686-1298397	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv912590	chr20:1278770-1298397	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1248200-1281200	Weak transcription	NHEK	skin
2	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
4	chr20:1256800-1281400	Weak transcription	Esophagus	oesophagus
5	chr20:1265600-1280400	Weak transcription	K562	blood
6	chr20:1266400-1284800	Weak transcription	Brain Germinal Matrix	brain
7	chr20:1267200-1281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:1267400-1281000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr20:1267600-1281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:1267800-1281000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr20:1268200-1280600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr20:1268200-1280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr20:1269200-1283600	Weak transcription	Right Ventricle	heart
14	chr20:1269400-1283200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr20:1271800-1280400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr20:1272200-1285400	Weak transcription	Adipose Nuclei	Adipose
17	chr20:1272200-1285400	Weak transcription	Left Ventricle	heart
18	chr20:1272200-1286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr20:1272400-1281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr20:1272400-1281200	Weak transcription	Osteobl	bone
21	chr20:1272400-1285800	Weak transcription	Fetal Muscle Leg	muscle
22	chr20:1272600-1294000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr20:1272800-1281200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr20:1272800-1283400	Weak transcription	HSMMtube	muscle
25	chr20:1273000-1281200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr20:1273000-1294000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr20:1274600-1282200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr20:1274800-1280400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr20:1274800-1280600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:1274800-1288200	Weak transcription	Fetal Intestine Small	intestine
31	chr20:1275000-1289400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr20:1275400-1280400	Weak transcription	Brain Hippocampus Middle	brain
33	chr20:1275400-1284000	Weak transcription	Pancreas	Pancrea
34	chr20:1275800-1285400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr20:1275800-1293800	Weak transcription	Brain Substantia Nigra	brain
36	chr20:1276000-1280800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr20:1276200-1281000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr20:1276600-1289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr20:1276800-1280400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr20:1277000-1280400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr20:1277200-1281000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr20:1277400-1280600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr20:1278000-1281200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr20:1278200-1294000	Weak transcription	Colon Smooth Muscle	Colon
45	chr20:1278800-1281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr20:1278800-1281200	Strong transcription	NHLF	lung
47	chr20:1278800-1283600	Weak transcription	Fetal Brain Female	brain
48	chr20:1279000-1281200	Weak transcription	Primary T cells from cord blood	blood
49	chr20:1279400-1281600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr20:1279400-1282000	Strong transcription	Brain Anterior Caudate	brain

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