Variant report

Variant	rs4730237
Chromosome Location	chr7:107047554-107047555
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	chr7:107047504..107049662-chr7:107051797..107053536,2	MCF-7	breast:
2	chr7:107046986..107049595-chr7:107052311..107054599,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10224503	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10234355	0.81[ASN][1000 genomes]
rs10243340	0.81[ASN][1000 genomes]
rs10245210	0.81[ASN][1000 genomes]
rs10264412	0.88[AMR][1000 genomes]
rs11535285	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12112877	0.83[ASN][1000 genomes]
rs12667527	0.81[ASN][1000 genomes]
rs12673675	0.81[ASN][1000 genomes]
rs13230144	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1544336	0.82[ASN][1000 genomes]
rs17153981	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17154040	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17154091	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17154104	0.81[ASN][1000 genomes]
rs1858888	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2107317	0.83[EUR][1000 genomes]
rs2237665	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2237668	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237671	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2237678	0.86[AMR][1000 genomes]
rs2253833	0.80[AMR][1000 genomes]
rs2395868	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2395869	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2395882	0.82[ASN][1000 genomes]
rs2395883	0.81[ASN][1000 genomes]
rs2520250	0.90[AMR][1000 genomes]
rs2520256	0.90[AMR][1000 genomes]
rs2712195	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2712196	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2712224	0.87[AMR][1000 genomes]
rs28687365	0.81[ASN][1000 genomes]
rs28714607	0.81[ASN][1000 genomes]
rs34325395	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4727678	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4727679	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4727680	0.81[ASN][1000 genomes]
rs4727681	0.80[ASN][1000 genomes]
rs4730235	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730245	0.81[ASN][1000 genomes]
rs57452492	0.81[ASN][1000 genomes]
rs58052742	0.81[AMR][1000 genomes]
rs58391518	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62482493	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62482495	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62482499	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62482502	0.92[ASN][1000 genomes]
rs62482503	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62482507	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62482543	0.83[ASN][1000 genomes]
rs62483633	0.80[EUR][1000 genomes]
rs62483634	0.80[EUR][1000 genomes]
rs62483640	0.83[EUR][1000 genomes]
rs62483641	0.83[EUR][1000 genomes]
rs62483725	0.84[AMR][1000 genomes]
rs67982599	0.81[ASN][1000 genomes]
rs6949634	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7777950	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7782057	0.81[ASN][1000 genomes]
rs7785892	0.81[ASN][1000 genomes]
rs7786801	0.82[ASN][1000 genomes]
rs7788271	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7788330	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7790080	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7803151	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9791733	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs982447	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs986994	0.80[ASN][1000 genomes]
rs987391	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv608073	chr7:106960515-107063686	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4730237	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107001400-107053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:107003800-107048400	Weak transcription	Dnd41	blood
3	chr7:107003800-107050200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:107008400-107048200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:107022200-107053000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:107027400-107053400	Weak transcription	Gastric	stomach
7	chr7:107027800-107050200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:107027800-107086800	Weak transcription	Aorta	Aorta
9	chr7:107028000-107052800	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:107028000-107054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:107028200-107053000	Weak transcription	Fetal Stomach	stomach
12	chr7:107028200-107082400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:107028200-107103800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:107028800-107053000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:107028800-107053200	Weak transcription	K562	blood
16	chr7:107029400-107050400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:107030200-107049000	Weak transcription	Right Ventricle	heart
18	chr7:107031600-107069600	Weak transcription	Fetal Kidney	kidney
19	chr7:107031800-107050200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:107032000-107050200	Weak transcription	Fetal Intestine Large	intestine
21	chr7:107032400-107068000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:107033800-107069800	Weak transcription	Small Intestine	intestine
23	chr7:107034000-107055600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:107035800-107052800	Weak transcription	HSMMtube	muscle
25	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:107036000-107050800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:107036200-107051000	Weak transcription	Liver	Liver
28	chr7:107036600-107050200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:107036800-107069800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:107037000-107053200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:107037000-107069800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:107037800-107102200	Weak transcription	Ovary	ovary
33	chr7:107038000-107054000	Weak transcription	Fetal Heart	heart
34	chr7:107038200-107069600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:107038800-107100600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:107039000-107050600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:107039000-107068000	Weak transcription	Lung	lung
38	chr7:107039200-107050600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:107040200-107048200	Weak transcription	Primary B cells from cord blood	blood
40	chr7:107040200-107050200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:107040200-107050200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:107040200-107051400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:107040200-107069800	Weak transcription	Fetal Intestine Small	intestine
44	chr7:107041000-107070000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:107041200-107053000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:107042400-107053800	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:107042800-107048600	Weak transcription	Primary T cells from cord blood	blood
48	chr7:107044400-107065200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:107044800-107053200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:107045200-107053000	Weak transcription	Brain Cingulate Gyrus	brain

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