Variant report

Variant	rs9847617
Chromosome Location	chr3:101307124-101307125
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:101306900-101307229	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:101307112-101307227	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:101294680..101296540-chr3:101306521..101308762,3	MCF-7	breast:
2	chr3:101306571..101308264-chr3:101393626..101395176,2	MCF-7	breast:
3	chr3:101294135..101296037-chr3:101305299..101307442,2	K562	blood:
4	chr3:101292711..101295635-chr3:101305942..101308105,2	K562	blood:

Variant related genes	Relation type
PCNP	TF binding region
ENSG00000242299	Chromatin interaction
ENSG00000081154	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11707956	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11718702	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12485844	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12696326	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13060379	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13072301	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1365319	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1365320	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162305	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34744830	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35346667	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35520845	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36067270	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3762730	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3804776	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4482647	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4519674	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4618204	0.94[ASN][1000 genomes]
rs4683851	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683933	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683935	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55772844	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769049	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6771590	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6779153	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6779355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782404	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6791392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6807147	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6809742	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7633409	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7635044	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7651917	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9825208	0.99[ASN][1000 genomes]
rs9844562	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv522745	chr3:101306507-101313940	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv528547	chr3:101306507-101313940	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9847617	SENP7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101294000-101312200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:101294200-101309000	Weak transcription	Colonic Mucosa	Colon
3	chr3:101294200-101310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:101294200-101319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:101294400-101309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:101295000-101309400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:101295000-101310200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:101295800-101315000	Weak transcription	Right Atrium	heart
9	chr3:101296000-101324600	Weak transcription	Aorta	Aorta
10	chr3:101296200-101310000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:101296400-101316400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:101296600-101311600	Weak transcription	Stomach Mucosa	stomach
13	chr3:101296600-101315000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:101296800-101318000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:101297400-101314400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:101297600-101315200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:101297800-101312400	Weak transcription	Brain Angular Gyrus	brain
18	chr3:101298600-101316400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:101298800-101312000	Weak transcription	Fetal Heart	heart
20	chr3:101298800-101312800	Weak transcription	Small Intestine	intestine
21	chr3:101299000-101309400	Weak transcription	Ovary	ovary
22	chr3:101300200-101317800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:101301000-101311400	Strong transcription	Fetal Stomach	stomach
24	chr3:101301000-101313400	Strong transcription	HSMM	muscle
25	chr3:101301000-101315400	Strong transcription	Dnd41	blood
26	chr3:101301200-101307200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:101301200-101313000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:101301200-101315400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:101301400-101313600	Strong transcription	Primary B cells from cord blood	blood
30	chr3:101301400-101316400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr3:101301600-101307200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr3:101301600-101307200	Strong transcription	Fetal Intestine Large	intestine
33	chr3:101301600-101309800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:101301600-101314600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr3:101301600-101315000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:101301600-101317000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:101301800-101307200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:101301800-101307600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:101301800-101311400	Strong transcription	Fetal Muscle Leg	muscle
40	chr3:101301800-101312200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr3:101301800-101313400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:101301800-101316000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:101302000-101310000	Weak transcription	NHDF-Ad	bronchial
44	chr3:101302200-101314400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr3:101302600-101319600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:101302800-101307200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr3:101302800-101313600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:101302800-101315000	Strong transcription	Fetal Thymus	thymus
49	chr3:101303000-101307200	Strong transcription	Fetal Brain Female	brain
50	chr3:101303200-101314600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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