Variant report

Variant	rs9904540
Chromosome Location	chr17:63168247-63168248
allele	A/T
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	chr17:63051300..63053869-chr17:63168006..63170478,2	K562	blood:
2	chr17:62971936..62973438-chr17:63168218..63170774,2	K562	blood:
3	chr17:63163123..63166330-chr17:63166704..63169557,3	K562	blood:
4	chr17:63168106..63170143-chr17:63186322..63188015,2	MCF-7	breast:
5	chr17:63167995..63174174-chr17:63174484..63177820,5	MCF-7	breast:
6	chr17:63166945..63171394-chr17:63172281..63178092,5	K562	blood:
7	chr17:63160128..63162121-chr17:63168023..63170188,2	K562	blood:
8	chr17:63158962..63160565-chr17:63168020..63170468,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1514500	0.86[CEU][hapmap];0.86[MEX][hapmap]
rs17688887	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs2869579	0.86[CEU][hapmap]
rs2869580	0.86[CEU][hapmap]
rs4790954	0.86[CEU][hapmap]
rs56269736	0.80[AMR][1000 genomes]
rs8072603	0.86[CEU][hapmap]
rs9900568	0.86[CEU][hapmap]
rs9900709	0.86[CEU][hapmap]
rs9904207	0.85[CEU][hapmap]
rs9907146	0.85[CEU][hapmap]
rs9909092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9909394	0.93[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs9914505	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914672	0.82[CEU][hapmap]
rs9914790	0.86[CEU][hapmap]
rs9916092	0.85[CEU][hapmap]
rs9916373	0.86[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63134400-63169000	Weak transcription	Colon Smooth Muscle	Colon
2	chr17:63141000-63175200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:63143600-63169400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:63153600-63175400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr17:63157000-63179800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:63157200-63169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:63160000-63180400	Weak transcription	Brain Substantia Nigra	brain
8	chr17:63160400-63168800	Weak transcription	A549	lung
9	chr17:63160600-63169200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:63160600-63169600	Weak transcription	Spleen	Spleen
11	chr17:63160800-63169400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:63160800-63169400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:63166600-63170000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr17:63166600-63170000	Enhancers	HUVEC	blood vessel
15	chr17:63166600-63170600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:63166600-63170600	Enhancers	Fetal Thymus	thymus
17	chr17:63166800-63169400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:63167000-63172600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:63167200-63169200	Enhancers	K562	blood
20	chr17:63167200-63170800	Enhancers	Primary hematopoietic stem cells	blood
21	chr17:63167400-63168800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:63167400-63168800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr17:63167400-63175200	Weak transcription	Brain Germinal Matrix	brain
24	chr17:63167600-63169200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:63167600-63169400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:63167600-63169400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:63167600-63169400	Weak transcription	Brain Anterior Caudate	brain
28	chr17:63167600-63169400	Weak transcription	Left Ventricle	heart
29	chr17:63167600-63169600	Weak transcription	Fetal Stomach	stomach
30	chr17:63167600-63170800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr17:63167600-63171400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:63167600-63172800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr17:63167600-63175000	Weak transcription	Brain Angular Gyrus	brain
34	chr17:63167800-63168600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr17:63167800-63168600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr17:63167800-63169400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr17:63167800-63169400	Weak transcription	Right Atrium	heart
38	chr17:63167800-63169800	Enhancers	Primary T cells from cord blood	blood
39	chr17:63167800-63170200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr17:63167800-63171400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr17:63167800-63172800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:63167800-63175000	Weak transcription	Fetal Brain Female	brain
43	chr17:63168000-63168600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr17:63168000-63169600	Weak transcription	Fetal Lung	lung
45	chr17:63168000-63170600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:63168000-63171200	Weak transcription	Fetal Brain Male	brain
47	chr17:63168200-63169200	Weak transcription	Thymus	Thymus
48	chr17:63168200-63169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:63168200-63169400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:63168200-63169400	Enhancers	Dnd41	blood

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