Variant report

Variant	rs55772196
Chromosome Location	chr17:38348353-38348354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38348080..38350590-chr17:38501950..38504205,2	K562	blood:
2	chr17:38330070..38334400-chr17:38346938..38351108,4	K562	blood:
3	chr17:38343298..38345399-chr17:38347624..38349920,2	MCF-7	breast:
4	chr17:38334977..38338913-chr17:38347829..38351366,4	MCF-7	breast:
5	chr17:38337616..38339944-chr17:38348078..38350196,2	K562	blood:
6	chr17:38268818..38270189-chr17:38347742..38348733,4	K562	blood:

Variant related genes	Relation type
ENSG00000108352	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12103921	0.98[ASN][1000 genomes]
rs12944717	0.92[ASN][1000 genomes]
rs16965687	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2280400	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2314338	0.82[ASN][1000 genomes]
rs28537537	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34223321	0.99[ASN][1000 genomes]
rs3744806	0.99[ASN][1000 genomes]
rs45567834	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55767073	0.83[AMR][1000 genomes]
rs55835834	0.87[ASN][1000 genomes]
rs55991953	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56013073	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56029626	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59018914	0.87[ASN][1000 genomes]
rs59861136	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61024420	0.90[ASN][1000 genomes]
rs6503537	0.82[ASN][1000 genomes]
rs6503539	0.81[ASN][1000 genomes]
rs67597966	0.93[ASN][1000 genomes]
rs72836633	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72836634	0.93[ASN][1000 genomes]
rs72836635	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72836636	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72836639	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72836640	0.88[ASN][1000 genomes]
rs72836641	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72836642	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72836648	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7359537	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7405635	0.92[ASN][1000 genomes]
rs8073925	0.97[ASN][1000 genomes]
rs8082192	0.99[ASN][1000 genomes]
rs9892404	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9892973	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9906409	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9907683	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9908034	0.81[ASN][1000 genomes]
rs9908354	0.96[ASN][1000 genomes]
rs9911840	0.81[ASN][1000 genomes]
rs9912082	0.82[ASN][1000 genomes]
rs9916782	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3413265	chr17:38346576-38348974	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38338000-38349800	Weak transcription	Dnd41	blood
2	chr17:38346800-38348400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
3	chr17:38346800-38348400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:38346800-38348600	Enhancers	Fetal Brain Male	brain
5	chr17:38347000-38348400	Enhancers	Stomach Mucosa	stomach
6	chr17:38347400-38348400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr17:38347400-38348400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr17:38347800-38348400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr17:38347800-38348600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr17:38347800-38348800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr17:38348000-38348400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr17:38348000-38348400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr17:38348000-38348400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr17:38348000-38348400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:38348000-38348400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:38348000-38348400	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr17:38348000-38348400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr17:38348000-38348400	Flanking Active TSS	Fetal Brain Female	brain
19	chr17:38348000-38348400	Enhancers	Fetal Lung	lung
20	chr17:38348000-38348400	Flanking Active TSS	A549	lung
21	chr17:38348000-38348600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:38348000-38348600	Enhancers	HUVEC	blood vessel
23	chr17:38348000-38348800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr17:38348000-38350200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:38348000-38350400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:38348000-38350400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:38348000-38350400	Weak transcription	Gastric	stomach
28	chr17:38348000-38350800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr17:38348000-38351000	Weak transcription	Spleen	Spleen
30	chr17:38348000-38353400	Weak transcription	Aorta	Aorta
31	chr17:38348200-38348400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr17:38348200-38348400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:38348200-38348400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:38348200-38348400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:38348200-38348400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr17:38348200-38348400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:38348200-38348400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr17:38348200-38348400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:38348200-38348400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:38348200-38348400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr17:38348200-38348400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:38348200-38348400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr17:38348200-38348400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr17:38348200-38348400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr17:38348200-38348400	Enhancers	Primary hematopoietic stem cells	blood
46	chr17:38348200-38348400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr17:38348200-38348400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr17:38348200-38348400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr17:38348200-38348400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr17:38348200-38348400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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