Variant report

Variant	rs6503985
Chromosome Location	chr17:46102157-46102158
allele	C/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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46101739..46105145-chr17:46207358..46210173,3	MCF-7	breast:
2	chr17:46101075..46105793-chr17:46203518..46208640,6	MCF-7	breast:
3	chr17:46102017..46103055-chr17:46695675..46696647,5	K562	blood:
4	chr17:46101220..46105616-chr17:46211133..46214847,5	K562	blood:
5	chr17:46101105..46103600-chr17:46138734..46141619,2	K562	blood:
6	chr17:46100290..46104941-chr17:46183793..46186470,6	MCF-7	breast:
7	chr17:46035894..46038484-chr17:46099628..46103418,4	MCF-7	breast:
8	chr17:46102069..46103134-chr17:46150737..46152351,16	K562	blood:
9	chr17:46029177..46031751-chr17:46099712..46102366,3	MCF-7	breast:
10	chr17:45973640..45975276-chr17:46101393..46103848,2	MCF-7	breast:
11	chr17:46101392..46102971-chr17:46203162..46205117,2	MCF-7	breast:
12	chr17:46101875..46102563-chr19:18133146..18133778,2	Hela-S3	cervix:
13	chr17:45960557..45963296-chr17:46100830..46102768,2	MCF-7	breast:
14	chr17:46024703..46026313-chr17:46100514..46102260,2	MCF-7	breast:
15	chr17:46100592..46104586-chr17:46183324..46186520,4	K562	blood:
16	chr12:14928107..14928898-chr17:46101875..46102670,2	Hela-S3	cervix:
17	chr17:46094604..46097136-chr17:46099608..46102510,2	K562	blood:
18	chr17:46055379..46055989-chr17:46102135..46102792,2	K562	blood:
19	chr17:46100886..46103222-chr17:46270913..46273515,2	MCF-7	breast:
20	chr17:46102152..46102814-chr17:46208435..46209175,3	MCF-7	breast:
21	chr17:46101312..46103922-chr17:46212522..46214057,2	MCF-7	breast:
22	chr17:46047240..46049948-chr17:46101636..46104344,3	MCF-7	breast:
23	chr17:46037638..46039949-chr17:46100422..46103113,2	MCF-7	breast:
24	chr17:46033388..46035885-chr17:46101144..46103907,2	MCF-7	breast:
25	chr17:46101261..46104972-chr17:46659979..46662985,3	K562	blood:
26	chr17:46100824..46102860-chr17:46184940..46187814,2	MCF-7	breast:
27	chr17:46101351..46104299-chr17:46183324..46186063,2	K562	blood:
28	chr17:46101917..46105138-chr17:46176105..46179935,5	K562	blood:
29	chr17:46046874..46048813-chr17:46100923..46104280,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141293	Chromatin interaction
ENSG00000268032	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000264019	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs882163	0.88[CEU][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs6503985	ATP6V0A1	cis	parietal	SCAN
rs6503985	NPEPPS	cis	parietal	SCAN
rs6503985	C17orf46	cis	parietal	SCAN
rs6503985	CDK5RAP3	cis	parietal	SCAN
rs6503985	NFE2L1	cis	parietal	SCAN
rs6503985	C17orf57	cis	cerebellum	SCAN
rs6503985	CDK5RAP3	cis	cerebellum	SCAN
rs6503985	PNPO	cis	cerebellum	SCAN
rs6503985	KRT13	cis	parietal	SCAN
rs6503985	C17orf57	cis	parietal	SCAN
rs6503985	PNPO	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46100400-46103400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr17:46100400-46103800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46100600-46102200	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr17:46100600-46102600	Flanking Bivalent TSS/Enh	HepG2	liver
5	chr17:46100600-46103000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:46100600-46103200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:46100800-46102200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:46100800-46102200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:46100800-46102200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:46100800-46102200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:46100800-46102200	Flanking Active TSS	Placenta	Placenta
12	chr17:46100800-46102200	Flanking Active TSS	NHLF	lung
13	chr17:46100800-46102400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:46100800-46102400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:46100800-46102400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr17:46100800-46102400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr17:46100800-46102400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:46100800-46102400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr17:46100800-46102400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr17:46100800-46102400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr17:46100800-46102400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr17:46100800-46102400	Enhancers	Gastric	stomach
23	chr17:46100800-46102400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr17:46100800-46102400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr17:46100800-46102400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr17:46100800-46102400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr17:46100800-46102400	Flanking Active TSS	GM12878-XiMat	blood
28	chr17:46100800-46102400	Flanking Active TSS	HUVEC	blood vessel
29	chr17:46100800-46102400	Flanking Active TSS	NH-A	brain
30	chr17:46100800-46102600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr17:46100800-46102600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr17:46100800-46102600	Flanking Active TSS	HSMM	muscle
33	chr17:46100800-46103000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr17:46100800-46103200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:46100800-46103200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr17:46101000-46102200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr17:46101000-46102400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr17:46101000-46102400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr17:46101000-46102400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:46101000-46102400	Flanking Active TSS	Liver	Liver
41	chr17:46101000-46102400	Flanking Active TSS	HMEC	breast
42	chr17:46101000-46102600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr17:46101000-46103200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr17:46101200-46102200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:46101200-46102200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
46	chr17:46101200-46102200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:46101200-46102200	Bivalent Enhancer	Fetal Thymus	thymus
48	chr17:46101200-46103200	Active TSS	Psoas Muscle	Psoas
49	chr17:46101400-46102200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr17:46101400-46102200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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