Variant report

Variant	rs9893405
Chromosome Location	chr17:46202199-46202200
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46202062..46204690-chr17:46205157..46208075,2	K562	blood:
2	chr17:46194453..46197293-chr17:46201950..46204423,2	MCF-7	breast:
3	chr17:46123246..46128677-chr17:46197755..46203630,8	MCF-7	breast:
4	chr17:46177666..46179488-chr17:46200620..46202273,2	MCF-7	breast:
5	chr17:46183960..46186242-chr17:46200589..46203810,3	K562	blood:
6	chr17:46197608..46199562-chr17:46200754..46203056,2	MCF-7	breast:
7	chr17:46202062..46204213-chr17:46205157..46207474,2	K562	blood:
8	chr17:46161493..46163130-chr17:46201549..46203706,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000082641	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000263412	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11079815	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11079817	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12452103	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1349676	0.85[EUR][1000 genomes]
rs1452661	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs188268	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910574	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs208006	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208007	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208013	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs208017	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2123342	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2325886	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28439030	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28551638	0.86[EUR][1000 genomes]
rs2924255	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2924256	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2924258	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2938471	0.82[ASN][1000 genomes]
rs2938480	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2938482	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2957932	0.82[ASN][1000 genomes]
rs2957933	0.82[ASN][1000 genomes]
rs3792693	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4794426	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4794427	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4794467	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5016303	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs595874	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504100	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6504101	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6504113	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7207270	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208796	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213530	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7216766	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7220940	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7225140	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8066529	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071262	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8077814	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081199	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8182234	0.84[AMR][1000 genomes]
rs979746	0.82[ASN][1000 genomes]
rs9905460	0.82[AMR][1000 genomes];0.82[EUR][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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:46188200-46207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:46189000-46202600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:46189400-46204200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:46190000-46204800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:46190400-46205000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr17:46191200-46220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:46191600-46204600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:46191800-46204600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:46192200-46202400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:46192400-46204800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:46192400-46205400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr17:46192800-46205600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:46194400-46204600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr17:46194800-46205000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:46196800-46202200	Weak transcription	Stomach Mucosa	stomach
17	chr17:46196800-46204800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:46196800-46208800	Weak transcription	K562	blood
19	chr17:46197800-46221000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:46198400-46204800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:46198800-46203400	Strong transcription	HMEC	breast
22	chr17:46199400-46204200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:46199400-46212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:46199600-46203400	Weak transcription	Psoas Muscle	Psoas
25	chr17:46199800-46209600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr17:46200000-46204800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr17:46200200-46203000	Weak transcription	Esophagus	oesophagus
28	chr17:46200200-46203200	Weak transcription	Colonic Mucosa	Colon
29	chr17:46200200-46203400	Weak transcription	HSMM	muscle
30	chr17:46200200-46204000	Weak transcription	HUVEC	blood vessel
31	chr17:46200200-46204800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr17:46200200-46205000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr17:46200200-46206000	Weak transcription	Pancreas	Pancrea
34	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr17:46200600-46202800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr17:46200600-46203200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:46200600-46203200	Weak transcription	Fetal Brain Female	brain
38	chr17:46200600-46204200	Weak transcription	Hela-S3	cervix
39	chr17:46200600-46205800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:46200600-46206400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:46200600-46209000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr17:46200600-46209600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:46200800-46203000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr17:46200800-46203400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:46200800-46203400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:46200800-46204600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:46200800-46204800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr17:46200800-46204800	Weak transcription	NHDF-Ad	bronchial
49	chr17:46200800-46204800	Weak transcription	NHLF	lung
50	chr17:46200800-46207400	Weak transcription	Right Ventricle	heart

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