Variant report

Variant	rs71381426
Chromosome Location	chr17:33594401-33594402
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33469085..33470669-chr17:33593118..33595439,2	K562	blood:
2	chr17:33589019..33591019-chr17:33592728..33594922,2	K562	blood:

Variant related genes	Relation type
ENSG00000073536	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12942605	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291189	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71381427	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9897359	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	esv2422399	chr17:33539240-33618601	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33578000-33595800	Genic enhancers	Primary T cells fromperipheralblood	blood
2	chr17:33581400-33601000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:33581600-33595200	Weak transcription	Brain Anterior Caudate	brain
4	chr17:33582600-33601000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:33583800-33594800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:33583800-33596000	Strong transcription	Thymus	Thymus
7	chr17:33584600-33598000	Strong transcription	Fetal Thymus	thymus
8	chr17:33584800-33595000	Strong transcription	HSMM	muscle
9	chr17:33584800-33596000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:33585000-33595200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:33585000-33595400	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr17:33585000-33595600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:33585000-33598000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:33585200-33595400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:33585200-33595800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:33585200-33596200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:33585400-33595200	Strong transcription	Adipose Nuclei	Adipose
18	chr17:33586400-33597000	Weak transcription	Fetal Brain Male	brain
19	chr17:33587400-33594600	Weak transcription	Stomach Mucosa	stomach
20	chr17:33588000-33596000	Weak transcription	Fetal Intestine Small	intestine
21	chr17:33589600-33596800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr17:33590000-33596200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr17:33590600-33599200	Weak transcription	Right Ventricle	heart
24	chr17:33591000-33595200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:33591000-33595400	Strong transcription	NHLF	lung
26	chr17:33591200-33594600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr17:33591600-33595400	Genic enhancers	Primary T cells from cord blood	blood
28	chr17:33592400-33595200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:33592600-33595400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:33593000-33594600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:33593000-33594800	Weak transcription	Placenta	Placenta
32	chr17:33593000-33595000	Weak transcription	Primary B cells from cord blood	blood
33	chr17:33593000-33595200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:33593000-33597600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr17:33593200-33594800	Weak transcription	NH-A	brain
36	chr17:33593200-33595000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:33593200-33595000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr17:33593200-33595000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr17:33593200-33595600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr17:33593200-33596000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:33593200-33596400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr17:33593200-33596600	Weak transcription	Aorta	Aorta
43	chr17:33593200-33597400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr17:33593200-33599200	Weak transcription	Colon Smooth Muscle	Colon
45	chr17:33593400-33594800	Weak transcription	Lung	lung
46	chr17:33593400-33595000	Weak transcription	Colonic Mucosa	Colon
47	chr17:33593400-33595000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr17:33593400-33595200	Weak transcription	Pancreas	Pancrea
49	chr17:33593400-33595800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr17:33593400-33595800	Weak transcription	Gastric	stomach

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