Variant report

Variant	rs2444245
Chromosome Location	chr15:43852043-43852044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking 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 miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv832988	chr15:43804641-43976862	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv428304	chr15:43823158-44008580	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
7	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv428633	chr15:43823160-44008580	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1039949	chr15:43831879-43992646	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	esv2757598	chr15:43831923-44058634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	esv2761766	chr15:43834318-44014255	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv524910	chr15:43836478-43939642	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv904148	chr15:43836478-43961204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv904149	chr15:43836478-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv904150	chr15:43836478-44040965	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv1039818	chr15:43845410-43988541	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1048041	chr15:43845410-43991014	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	esv2760393	chr15:43845422-44024490	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv870240	chr15:43851142-43988761	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
21	nsv974568	chr15:43851345-43911094	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv534652	chr15:43851548-43948346	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv994950	chr15:43851548-43951301	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	nsv904151	chr15:43852043-43938288	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
25	nsv904152	chr15:43852043-43940806	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
26	nsv904153	chr15:43852043-43951118	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	nsv904154	chr15:43852043-43961204	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
28	nsv904155	chr15:43852043-43988573	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
29	nsv904156	chr15:43852043-44011113	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
30	nsv904157	chr15:43852043-44019592	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
31	nsv904158	chr15:43852043-44053617	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43818000-43852600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:43823800-43852600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr15:43824800-43853000	Weak transcription	GM12878-XiMat	blood
4	chr15:43824800-43853200	Weak transcription	Hela-S3	cervix
5	chr15:43827400-43852600	Weak transcription	Left Ventricle	heart
6	chr15:43827400-43854000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:43827600-43852800	Weak transcription	Lung	lung
8	chr15:43827600-43854000	Weak transcription	Aorta	Aorta
9	chr15:43827600-43855400	Weak transcription	Ovary	ovary
10	chr15:43827800-43852800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:43829000-43852600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:43839800-43853000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr15:43840200-43852600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:43840200-43853200	Weak transcription	HMEC	breast
15	chr15:43840800-43853200	Weak transcription	Psoas Muscle	Psoas
16	chr15:43842000-43852600	Weak transcription	NHEK	skin
17	chr15:43843200-43852600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:43843400-43852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:43843400-43852600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:43845000-43852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:43847200-43853000	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:43849200-43852600	Weak transcription	Liver	Liver
23	chr15:43849400-43852800	Weak transcription	Fetal Intestine Large	intestine
24	chr15:43849800-43852600	Weak transcription	Spleen	Spleen
25	chr15:43849800-43853200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:43849800-43853200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:43850000-43852600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:43850000-43857000	Weak transcription	Brain Angular Gyrus	brain
29	chr15:43850200-43852600	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:43851200-43852800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr15:43851200-43852800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:43851200-43852800	Weak transcription	Colonic Mucosa	Colon
33	chr15:43851200-43852800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:43851200-43853400	Weak transcription	Adipose Nuclei	Adipose
35	chr15:43851200-43853400	Weak transcription	Esophagus	oesophagus
36	chr15:43851200-43853400	Weak transcription	Gastric	stomach
37	chr15:43851200-43854000	Weak transcription	Fetal Intestine Small	intestine
38	chr15:43851400-43853000	Weak transcription	Primary B cells from cord blood	blood
39	chr15:43851400-43853000	Weak transcription	Primary T cells from cord blood	blood
40	chr15:43851400-43853000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:43851400-43853000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:43851400-43853000	Weak transcription	Brain Anterior Caudate	brain
43	chr15:43851400-43853000	Weak transcription	Fetal Stomach	stomach
44	chr15:43851400-43853000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr15:43851400-43853200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:43851400-43853400	Weak transcription	Placenta	Placenta
47	chr15:43851400-43854600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:43851600-43853200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:43851600-43853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:43851600-43853200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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