Variant report

Variant	rs730166
Chromosome Location	chr15:42648923-42648924
allele	C/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	chr15:42648583-42649213	K562	blood:	n/a	n/a

Variant related genes	Relation type
CAPN3	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11639355	1.00[YRI][hapmap]
rs16952474	1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17708630	1.00[YRI][hapmap]
rs17764737	1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs17764849	1.00[YRI][hapmap];0.92[AMR][1000 genomes]
rs17765354	1.00[YRI][hapmap]
rs28364447	1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28364466	0.92[AMR][1000 genomes]
rs28364469	1.00[YRI][hapmap];0.92[AMR][1000 genomes]
rs28364552	1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28364553	0.91[EUR][1000 genomes]
rs28364554	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28745878	0.85[AMR][1000 genomes]
rs6493046	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv932995	chr15:42640015-42704121	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
2	chr15:42604600-42651200	Weak transcription	Fetal Kidney	kidney
3	chr15:42619600-42656200	Weak transcription	HMEC	breast
4	chr15:42627600-42654600	Weak transcription	HSMM	muscle
5	chr15:42630600-42650600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr15:42631600-42649800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr15:42631800-42649400	Weak transcription	Fetal Brain Male	brain
8	chr15:42631800-42651000	Weak transcription	Fetal Heart	heart
9	chr15:42632200-42652600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr15:42634600-42650400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr15:42636400-42656600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:42637200-42653600	Weak transcription	Brain Germinal Matrix	brain
13	chr15:42638400-42651800	Weak transcription	Psoas Muscle	Psoas
14	chr15:42639400-42658600	Weak transcription	Hela-S3	cervix
15	chr15:42639800-42652200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:42640200-42649800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr15:42641400-42657400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:42641800-42649600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:42641800-42652800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:42642400-42655400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:42643000-42650400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:42643000-42650800	Strong transcription	Adipose Nuclei	Adipose
23	chr15:42643000-42654800	Strong transcription	Liver	Liver
24	chr15:42643200-42650800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:42643400-42649400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:42643400-42649400	Strong transcription	Fetal Intestine Large	intestine
27	chr15:42643400-42649600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:42643400-42649600	Strong transcription	Primary B cells from cord blood	blood
29	chr15:42643400-42649800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:42643400-42649800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:42645000-42649600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:42645000-42652400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:42645000-42656600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:42645000-42656800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:42645400-42649400	Weak transcription	Placenta	Placenta
36	chr15:42645600-42650000	Weak transcription	Gastric	stomach
37	chr15:42645600-42654400	Weak transcription	NHLF	lung
38	chr15:42645600-42655000	Weak transcription	Right Ventricle	heart
39	chr15:42645600-42655200	Weak transcription	Pancreas	Pancrea
40	chr15:42645600-42663000	Weak transcription	NHDF-Ad	bronchial
41	chr15:42645600-42663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr15:42645600-42677800	Weak transcription	Spleen	Spleen
43	chr15:42645800-42649400	Weak transcription	Thymus	Thymus
44	chr15:42645800-42649800	Weak transcription	Esophagus	oesophagus
45	chr15:42645800-42652000	Weak transcription	Fetal Stomach	stomach
46	chr15:42645800-42653200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:42645800-42653200	Weak transcription	Fetal Lung	lung
48	chr15:42646000-42649000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:42646000-42652000	Weak transcription	Brain Hippocampus Middle	brain
50	chr15:42646000-42654000	Weak transcription	Colon Smooth Muscle	Colon

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