Variant report

Variant	rs4506131
Chromosome Location	chr7:97913196-97913197
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97906466..97912742-chr7:97912887..97917524,14	MCF-7	breast:
2	chr7:97863932..97867672-chr7:97911936..97914933,4	K562	blood:
3	chr7:97864661..97867509-chr7:97913185..97914838,2	K562	blood:

Variant related genes	Relation type
ENSG00000164713	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1045916	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs10953258	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10953259	0.90[CHB][hapmap]
rs3779195	0.90[CHB][hapmap]
rs3779196	0.84[CHB][hapmap]
rs4268041	0.84[CHB][hapmap]
rs4727392	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6951286	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	esv1802449	chr7:97900191-97929668	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4506131	BAIAP2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97909800-97914200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:97910000-97913800	Active TSS	Aorta	Aorta
3	chr7:97910000-97914200	Active TSS	HSMMtube	muscle
4	chr7:97911400-97914400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:97911400-97914600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr7:97911400-97914600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:97911400-97915600	Flanking Active TSS	Colonic Mucosa	Colon
8	chr7:97911600-97913400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr7:97911600-97914600	Flanking Active TSS	HMEC	breast
10	chr7:97911600-97915600	Flanking Active TSS	Liver	Liver
11	chr7:97911600-97915600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr7:97911600-97915800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr7:97911600-97916000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr7:97911600-97916800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:97911600-97917800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:97911600-97917800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:97911600-97917800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:97911800-97913200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr7:97911800-97913600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:97911800-97913600	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr7:97911800-97913800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:97911800-97913800	Flanking Active TSS	Fetal Brain Female	brain
23	chr7:97911800-97914200	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr7:97911800-97914400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:97911800-97914400	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr7:97911800-97914600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr7:97911800-97914600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
28	chr7:97911800-97914800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
29	chr7:97911800-97915000	Flanking Active TSS	A549	lung
30	chr7:97911800-97915400	Flanking Active TSS	HepG2	liver
31	chr7:97911800-97915600	Flanking Active TSS	HUVEC	blood vessel
32	chr7:97911800-97916000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr7:97911800-97916000	Transcr. at gene 5' and 3'	Lung	lung
34	chr7:97911800-97916600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
35	chr7:97911800-97916800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr7:97911800-97917200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:97912000-97913200	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr7:97912000-97913600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr7:97912000-97913800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:97912000-97914200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
41	chr7:97912000-97914200	Active TSS	Psoas Muscle	Psoas
42	chr7:97912000-97914200	Transcr. at gene 5' and 3'	NHEK	skin
43	chr7:97912000-97914400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:97912000-97914400	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
45	chr7:97912000-97914600	Enhancers	Primary B cells from peripheral blood	blood
46	chr7:97912000-97915200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:97912000-97916000	Flanking Active TSS	Hela-S3	cervix
48	chr7:97912000-97916400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr7:97912000-97917200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr7:97912200-97913200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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