Variant report

Variant	rs2241827
Chromosome Location	chr15:42694944-42694945
allele	A/G
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	MAX	chr15:42694429-42695415	NB4	blood:	n/a	chr15:42695222-42695231 chr15:42695221-42695231 chr15:42695223-42695230 chr15:42695220-42695231
2	SPI1	chr15:42694587-42695050	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42693940..42698488-chr15:42698720..42703314,5	K562	blood:

Variant related genes	Relation type
CAPN3	TF binding region
ENSG00000092529	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11070374	1.00[YRI][hapmap]
rs2412711	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3115882	0.92[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs3115883	1.00[YRI][hapmap]
rs7168835	1.00[YRI][hapmap]
rs9783683	1.00[YRI][hapmap]

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	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
5	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
6	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
7	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42656800-42697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:42675200-42702800	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:42678600-42706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:42678800-42702800	Weak transcription	NHLF	lung
5	chr15:42679000-42706800	Weak transcription	Right Atrium	heart
6	chr15:42680200-42696400	Weak transcription	HSMMtube	muscle
7	chr15:42681600-42695400	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:42683800-42704600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr15:42689000-42697800	Weak transcription	NHEK	skin
10	chr15:42689000-42712400	Weak transcription	Fetal Brain Male	brain
11	chr15:42689400-42696800	Weak transcription	Psoas Muscle	Psoas
12	chr15:42689400-42703200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:42689800-42706600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:42690200-42695600	Strong transcription	Fetal Intestine Small	intestine
15	chr15:42690800-42702400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:42691000-42703000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:42691200-42696000	Strong transcription	Fetal Muscle Leg	muscle
18	chr15:42691200-42696200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr15:42691200-42696400	Strong transcription	Liver	Liver
20	chr15:42691200-42697000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:42691400-42695600	Strong transcription	Fetal Intestine Large	intestine
22	chr15:42691400-42696400	Strong transcription	Primary B cells from cord blood	blood
23	chr15:42691400-42696800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr15:42691400-42697200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:42691600-42695000	Strong transcription	Rectal Smooth Muscle	rectum
26	chr15:42691600-42697400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr15:42692400-42702400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr15:42692600-42695600	Weak transcription	Brain Hippocampus Middle	brain
29	chr15:42692600-42695800	Weak transcription	Brain Angular Gyrus	brain
30	chr15:42692600-42702400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:42692600-42702400	Weak transcription	Aorta	Aorta
32	chr15:42692600-42708400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:42692800-42702800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:42693200-42695200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:42693200-42697000	Strong transcription	Fetal Stomach	stomach
36	chr15:42693400-42695000	Enhancers	HUVEC	blood vessel
37	chr15:42693400-42696000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:42693600-42695200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr15:42693600-42697000	Strong transcription	Adipose Nuclei	Adipose
40	chr15:42693600-42697200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:42693600-42703000	Weak transcription	Brain Germinal Matrix	brain
42	chr15:42693800-42695000	Strong transcription	Colonic Mucosa	Colon
43	chr15:42693800-42695000	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr15:42693800-42695000	Genic enhancers	Spleen	Spleen
45	chr15:42693800-42695200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr15:42693800-42695400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr15:42693800-42695400	Strong transcription	Gastric	stomach
48	chr15:42693800-42695600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:42693800-42696000	Strong transcription	Esophagus	oesophagus
50	chr15:42693800-42696400	Strong transcription	Rectal Mucosa Donor 29	rectum

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