Variant report

Variant	rs6041144
Chromosome Location	chr20:1267220-1267221
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1249007..1251870-chr20:1263248..1267387,3	K562	blood:
2	chr20:1262142..1267228-chr20:1267583..1271633,5	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6041148	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6041153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6041238	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6041267	1.00[AMR][1000 genomes]
rs61747127	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	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1248000-1271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:1248000-1278600	Weak transcription	Spleen	Spleen
3	chr20:1248200-1277400	Weak transcription	Fetal Stomach	stomach
4	chr20:1248200-1281200	Weak transcription	NHEK	skin
5	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr20:1253000-1274800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
8	chr20:1255400-1271600	Weak transcription	HSMMtube	muscle
9	chr20:1256000-1277800	Weak transcription	Fetal Brain Female	brain
10	chr20:1256400-1277400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr20:1256800-1281400	Weak transcription	Esophagus	oesophagus
12	chr20:1258600-1269000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:1260000-1272200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr20:1260400-1269200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr20:1260600-1267600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr20:1261200-1267400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr20:1261200-1272000	Weak transcription	Osteobl	bone
18	chr20:1261400-1278800	Weak transcription	NHLF	lung
19	chr20:1262400-1272800	Weak transcription	Right Atrium	heart
20	chr20:1262600-1271800	Weak transcription	Left Ventricle	heart
21	chr20:1262800-1268400	Weak transcription	Psoas Muscle	Psoas
22	chr20:1262800-1271800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr20:1263200-1276200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr20:1264200-1273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr20:1264800-1269200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr20:1264800-1269800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:1264800-1271800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr20:1264800-1274800	Weak transcription	Gastric	stomach
29	chr20:1265400-1271600	Weak transcription	Lung	lung
30	chr20:1265400-1277800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr20:1265600-1267800	Enhancers	Brain Anterior Caudate	brain
32	chr20:1265600-1280400	Weak transcription	K562	blood
33	chr20:1266200-1268600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr20:1266200-1268800	Enhancers	Fetal Thymus	thymus
35	chr20:1266400-1284800	Weak transcription	Brain Germinal Matrix	brain
36	chr20:1266800-1267400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr20:1266800-1267600	Enhancers	Brain Angular Gyrus	brain
38	chr20:1266800-1267600	Enhancers	Brain Cingulate Gyrus	brain
39	chr20:1266800-1268000	Enhancers	Thymus	Thymus
40	chr20:1266800-1268200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr20:1266800-1268200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr20:1266800-1268200	Enhancers	Brain Hippocampus Middle	brain
43	chr20:1266800-1268600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr20:1266800-1269200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr20:1267000-1267400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr20:1267000-1267400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr20:1267000-1267400	Enhancers	Fetal Muscle Leg	muscle
48	chr20:1267000-1267400	Enhancers	Right Ventricle	heart
49	chr20:1267000-1267600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:1267000-1267600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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