Variant report

Variant	rs9316347
Chromosome Location	chr13:48639532-48639533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48638983..48640532-chr13:48645764..48648632,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12584652	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17350996	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2025865	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35299472	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3809330	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4941627	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4942742	0.86[EUR][1000 genomes]
rs4942743	0.83[EUR][1000 genomes]
rs4942747	0.83[EUR][1000 genomes]
rs4942749	0.83[EUR][1000 genomes]
rs4942750	0.83[EUR][1000 genomes]
rs4942751	0.83[EUR][1000 genomes]
rs4942752	0.83[EUR][1000 genomes]
rs59829900	0.81[EUR][1000 genomes]
rs6561434	0.83[EUR][1000 genomes]
rs7323969	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7330472	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7331900	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7332147	0.85[EUR][1000 genomes]
rs7332326	0.82[EUR][1000 genomes]
rs7338844	0.83[EUR][1000 genomes]
rs7338999	0.83[EUR][1000 genomes]
rs7339370	0.83[EUR][1000 genomes]
rs7981114	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7986400	0.83[EUR][1000 genomes]
rs7990060	0.83[EUR][1000 genomes]
rs9285165	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9316346	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316348	0.83[EUR][1000 genomes]
rs9316349	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9316352	0.81[EUR][1000 genomes]
rs9316353	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9316354	0.82[EUR][1000 genomes]
rs9316355	0.83[EUR][1000 genomes]
rs9316356	0.83[EUR][1000 genomes]
rs9316357	0.83[EUR][1000 genomes]
rs9316358	0.83[EUR][1000 genomes]
rs9316359	0.83[EUR][1000 genomes]
rs9316360	0.80[EUR][1000 genomes]
rs9562800	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9562806	0.83[EUR][1000 genomes]
rs9562808	0.84[EUR][1000 genomes]
rs9567979	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9567993	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9567999	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9568001	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9568002	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9568003	0.83[EUR][1000 genomes]
rs9568004	0.83[EUR][1000 genomes]
rs9568005	0.83[EUR][1000 genomes]
rs9568006	0.83[EUR][1000 genomes]
rs9568008	0.83[EUR][1000 genomes]
rs9568009	0.82[EUR][1000 genomes]
rs9568015	0.82[EUR][1000 genomes]
rs9591135	0.83[EUR][1000 genomes]
rs9591138	0.83[EUR][1000 genomes]
rs9591139	0.83[EUR][1000 genomes]
rs9591140	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9595835	0.86[EUR][1000 genomes]
rs9595836	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595837	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9595843	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48612600-48640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:48612600-48645000	Weak transcription	Stomach Mucosa	stomach
3	chr13:48612800-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:48612800-48640400	Weak transcription	Psoas Muscle	Psoas
5	chr13:48613000-48640200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:48613000-48640400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:48613200-48640400	Weak transcription	Fetal Heart	heart
8	chr13:48613200-48641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr13:48613200-48642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr13:48613400-48641600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr13:48613400-48647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr13:48613600-48645000	Weak transcription	Small Intestine	intestine
13	chr13:48616400-48642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr13:48618800-48644800	Weak transcription	Colonic Mucosa	Colon
15	chr13:48623200-48640200	Weak transcription	Colon Smooth Muscle	Colon
16	chr13:48623200-48652200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr13:48625600-48640200	Weak transcription	Fetal Kidney	kidney
18	chr13:48625600-48640200	Weak transcription	A549	lung
19	chr13:48625800-48640400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:48626000-48640200	Weak transcription	HUVEC	blood vessel
21	chr13:48627200-48640200	Weak transcription	NH-A	brain
22	chr13:48627200-48640400	Weak transcription	K562	blood
23	chr13:48627400-48639800	Weak transcription	HSMMtube	muscle
24	chr13:48627400-48640200	Weak transcription	Brain Angular Gyrus	brain
25	chr13:48627400-48640200	Weak transcription	Brain Anterior Caudate	brain
26	chr13:48627400-48640200	Weak transcription	Fetal Brain Female	brain
27	chr13:48627400-48640200	Weak transcription	Pancreas	Pancrea
28	chr13:48627400-48640200	Weak transcription	NHDF-Ad	bronchial
29	chr13:48627400-48640400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:48627400-48640400	Weak transcription	Lung	lung
31	chr13:48627400-48640800	Weak transcription	Esophagus	oesophagus
32	chr13:48627400-48642200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:48627400-48644800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr13:48627400-48645000	Weak transcription	Gastric	stomach
35	chr13:48627400-48645200	Weak transcription	Aorta	Aorta
36	chr13:48627600-48639600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr13:48627600-48640200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:48627600-48640200	Weak transcription	Brain Germinal Matrix	brain
39	chr13:48627600-48640200	Weak transcription	Placenta	Placenta
40	chr13:48627600-48640200	Weak transcription	Ovary	ovary
41	chr13:48627600-48640200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr13:48627600-48640200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr13:48627600-48640200	Weak transcription	HepG2	liver
44	chr13:48627600-48640400	Weak transcription	Brain Hippocampus Middle	brain
45	chr13:48627600-48640400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr13:48627600-48640400	Weak transcription	Left Ventricle	heart
47	chr13:48627600-48640600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr13:48627600-48641600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:48627600-48642200	Weak transcription	Brain Substantia Nigra	brain
50	chr13:48627800-48640200	Weak transcription	Primary B cells from peripheral blood	blood

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