Variant report

Variant	rs12438668
Chromosome Location	chr15:44042904-44042905
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	chr15:44042895-44043176	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44040936..44043692-chr15:44068997..44071077,2	K562	blood:

Variant related genes	Relation type
CATSPER2P1	TF binding region
ENSG00000128886	Chromatin interaction
ENSG00000140264	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2245161	1.00[AMR][1000 genomes]
rs2264051	1.00[AMR][1000 genomes]
rs2444248	1.00[AMR][1000 genomes]
rs2447200	1.00[AMR][1000 genomes]
rs2447214	1.00[AMR][1000 genomes]
rs2930527	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559805	1.00[AMR][1000 genomes]
rs56329224	1.00[AMR][1000 genomes]
rs567249	1.00[AMR][1000 genomes]
rs59083674	1.00[AMR][1000 genomes]
rs612258	1.00[AMR][1000 genomes]
rs656473	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs690262	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	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
6	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
7	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
8	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
10	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
11	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
12	esv33661	chr15:44016519-44064420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44039200-44049400	Weak transcription	Spleen	Spleen
2	chr15:44039600-44052000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:44039600-44055400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:44039800-44048800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:44040200-44043600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:44040200-44048200	Weak transcription	Fetal Kidney	kidney
7	chr15:44040200-44049200	Weak transcription	Esophagus	oesophagus
8	chr15:44040200-44056000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:44040200-44062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:44040400-44043400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:44040400-44043600	Enhancers	Left Ventricle	heart
12	chr15:44040400-44043800	Weak transcription	HSMMtube	muscle
13	chr15:44040400-44046000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:44040400-44046400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr15:44040600-44043400	Weak transcription	HSMM	muscle
16	chr15:44040600-44045800	Weak transcription	Fetal Brain Female	brain
17	chr15:44040600-44046800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:44040800-44043200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:44040800-44043400	Weak transcription	Brain Germinal Matrix	brain
20	chr15:44040800-44043800	Weak transcription	Fetal Intestine Large	intestine
21	chr15:44040800-44055600	Weak transcription	Psoas Muscle	Psoas
22	chr15:44040800-44055800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:44041000-44043400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:44041000-44043600	Weak transcription	Small Intestine	intestine
25	chr15:44041000-44044200	Enhancers	Stomach Mucosa	stomach
26	chr15:44041000-44045600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:44041000-44047000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:44041000-44068800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:44041200-44043600	Strong transcription	Fetal Stomach	stomach
30	chr15:44041600-44043600	Weak transcription	Hela-S3	cervix
31	chr15:44042000-44043400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:44042000-44043400	Active TSS	GM12878-XiMat	blood
33	chr15:44042000-44043600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr15:44042000-44066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:44042000-44066800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:44042000-44067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:44042200-44043000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:44042200-44043000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:44042200-44043000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:44042200-44043400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:44042200-44043400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:44042200-44043400	Weak transcription	Brain Angular Gyrus	brain
43	chr15:44042200-44043400	Weak transcription	Brain Hippocampus Middle	brain
44	chr15:44042200-44043400	Strong transcription	Fetal Intestine Small	intestine
45	chr15:44042200-44043400	Weak transcription	NH-A	brain
46	chr15:44042200-44043400	Weak transcription	NHDF-Ad	bronchial
47	chr15:44042200-44043400	Weak transcription	NHLF	lung
48	chr15:44042200-44043400	Weak transcription	Osteobl	bone
49	chr15:44042200-44043600	Weak transcription	Colon Smooth Muscle	Colon
50	chr15:44042200-44044200	Weak transcription	Muscle Satellite Cultured Cells	--

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