Variant report

Variant	rs17398450
Chromosome Location	chr8:126037033-126037034
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126023202..126026659-chr8:126034070..126037964,3	K562	blood:
2	chr8:126034261..126037481-chr8:126054342..126057092,3	MCF-7	breast:
3	chr8:126032820..126035325-chr8:126036016..126038466,2	MCF-7	breast:
4	chr8:126036207..126038970-chr8:126041820..126045600,5	MCF-7	breast:
5	chr8:126034787..126037250-chr8:126038544..126040389,2	MCF-7	breast:
6	chr8:125622218..125624702-chr8:126034880..126037308,2	K562	blood:
7	chr8:126024478..126026122-chr8:126035947..126038156,2	MCF-7	breast:
8	chr8:126036415..126039009-chr8:126059941..126062119,2	MCF-7	breast:
9	chr8:126028822..126031408-chr8:126036412..126038864,2	MCF-7	breast:
10	chr8:126024476..126026367-chr8:126035002..126037151,2	K562	blood:
11	chr8:126030894..126034599-chr8:126035083..126038244,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104549	Chromatin interaction
ENSG00000164961	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17398660	0.87[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3860843	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57886679	0.83[AMR][1000 genomes];0.97[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126013400-126040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
3	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:126014600-126044000	Weak transcription	Stomach Mucosa	stomach
5	chr8:126015400-126037400	Strong transcription	A549	lung
6	chr8:126015400-126037600	Strong transcription	HSMM	muscle
7	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:126015600-126039000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:126015600-126041000	Strong transcription	Fetal Thymus	thymus
10	chr8:126015800-126037400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:126016000-126041400	Strong transcription	Liver	Liver
12	chr8:126017600-126037600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr8:126017800-126037400	Strong transcription	HUVEC	blood vessel
14	chr8:126017800-126038400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:126018000-126037800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:126021200-126041200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:126023400-126038400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:126024000-126037600	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr8:126024200-126038000	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:126024400-126037400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:126024600-126043200	Weak transcription	Fetal Brain Male	brain
24	chr8:126026400-126037600	Strong transcription	NH-A	brain
25	chr8:126026600-126038600	Strong transcription	Dnd41	blood
26	chr8:126027000-126037400	Strong transcription	Fetal Brain Female	brain
27	chr8:126027000-126037600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:126027400-126038000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr8:126027600-126037600	Strong transcription	Primary T cells from cord blood	blood
30	chr8:126027600-126038400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:126027600-126044400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:126027800-126038800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:126027800-126040800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr8:126028200-126037400	Strong transcription	Primary hematopoietic stem cells	blood
35	chr8:126028200-126037400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:126028200-126044800	Strong transcription	Primary B cells from cord blood	blood
37	chr8:126028200-126072000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:126028400-126040200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:126028400-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:126028600-126038200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:126028600-126038600	Strong transcription	Fetal Intestine Large	intestine
42	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:126028800-126037400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:126028800-126041800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:126028800-126072200	Strong transcription	Adipose Nuclei	Adipose
46	chr8:126029000-126037600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:126029000-126038000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:126029000-126041000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:126029200-126037400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:126029400-126044000	Weak transcription	Pancreas	Pancrea

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