Variant report

Variant	rs17086576
Chromosome Location	chr9:86305360-86305361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86303158..86305549-chr9:86307402..86310035,3	K562	blood:
2	chr9:86304049..86306359-chr9:86307807..86310071,2	K562	blood:
3	chr9:86300921..86303072-chr9:86304972..86308780,3	MCF-7	breast:
4	chr9:86300623..86303382-chr9:86303567..86306899,3	K562	blood:

Variant related genes	Relation type
ENSG00000135018	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12115755	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17086541	0.91[LWK][hapmap]
rs17086544	1.00[MEX][hapmap]
rs57071190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57338929	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57391609	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59851611	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60734573	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61218358	1.00[AMR][1000 genomes]
rs61567557	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7026362	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7030634	1.00[AMR][1000 genomes]
rs7031204	1.00[AMR][1000 genomes]
rs7033585	1.00[MEX][hapmap]
rs7046251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7851817	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7857256	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7858992	1.00[AMR][1000 genomes]
rs7866346	1.00[AMR][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	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active 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	29 gene(s)	inside rSNPs	diseases
2	nsv1044639	chr9:86252505-86412041	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv893513	chr9:86298632-86433459	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86280400-86307400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:86289000-86308200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:86289000-86321800	Weak transcription	Esophagus	oesophagus
4	chr9:86291400-86314400	Weak transcription	Fetal Heart	heart
5	chr9:86292800-86308600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr9:86293600-86317000	Weak transcription	NHLF	lung
7	chr9:86294000-86321800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:86294200-86305800	Weak transcription	Spleen	Spleen
9	chr9:86294200-86314200	Weak transcription	Gastric	stomach
10	chr9:86294200-86315600	Weak transcription	Right Ventricle	heart
11	chr9:86294200-86320000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:86295000-86308800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:86295000-86313600	Weak transcription	Lung	lung
14	chr9:86296000-86320800	Weak transcription	Fetal Brain Female	brain
15	chr9:86296200-86316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:86296800-86306400	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:86296800-86314200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:86297000-86315600	Weak transcription	HMEC	breast
19	chr9:86297000-86315600	Weak transcription	HSMM	muscle
20	chr9:86297000-86320000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr9:86297200-86305400	Weak transcription	Psoas Muscle	Psoas
22	chr9:86297600-86305400	Weak transcription	Left Ventricle	heart
23	chr9:86297600-86305400	Weak transcription	Small Intestine	intestine
24	chr9:86297600-86310800	Weak transcription	Fetal Lung	lung
25	chr9:86297600-86314400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr9:86297600-86319800	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:86297600-86321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:86297800-86311600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:86297800-86314800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr9:86297800-86315800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:86298000-86305400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:86298000-86307800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr9:86298000-86308000	Weak transcription	Primary B cells from cord blood	blood
34	chr9:86298000-86308200	Weak transcription	K562	blood
35	chr9:86298000-86313600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:86298000-86314200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr9:86298000-86315400	Weak transcription	HepG2	liver
38	chr9:86298000-86315600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr9:86298000-86316600	Weak transcription	Thymus	Thymus
40	chr9:86298000-86316800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:86298000-86320400	Weak transcription	Fetal Intestine Large	intestine
42	chr9:86298200-86311200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr9:86298200-86317000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:86298200-86317600	Weak transcription	Dnd41	blood
45	chr9:86298600-86320400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr9:86298800-86305400	Weak transcription	Pancreas	Pancrea
47	chr9:86298800-86320800	Weak transcription	Fetal Thymus	thymus
48	chr9:86299600-86313600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:86299600-86319400	Weak transcription	Fetal Stomach	stomach
50	chr9:86299600-86320000	Weak transcription	Fetal Intestine Small	intestine

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