Variant report

Variant	rs28653631
Chromosome Location	chr15:44043421-44043422
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44040936..44043692-chr15:44068997..44071077,2	K562	blood:
2	chr15:44036863..44039388-chr15:44043033..44046484,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128886	Chromatin interaction
ENSG00000167004	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000205771	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17727871	0.90[AMR][1000 genomes]
rs17727979	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17795770	1.00[AMR][1000 genomes];0.84[EUR][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	chr15:44040400-44043600	Enhancers	Left Ventricle	heart
11	chr15:44040400-44043800	Weak transcription	HSMMtube	muscle
12	chr15:44040400-44046000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:44040400-44046400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:44040600-44045800	Weak transcription	Fetal Brain Female	brain
15	chr15:44040600-44046800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:44040800-44043800	Weak transcription	Fetal Intestine Large	intestine
17	chr15:44040800-44055600	Weak transcription	Psoas Muscle	Psoas
18	chr15:44040800-44055800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:44041000-44043600	Weak transcription	Small Intestine	intestine
20	chr15:44041000-44044200	Enhancers	Stomach Mucosa	stomach
21	chr15:44041000-44045600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:44041000-44047000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:44041000-44068800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:44041200-44043600	Strong transcription	Fetal Stomach	stomach
25	chr15:44041600-44043600	Weak transcription	Hela-S3	cervix
26	chr15:44042000-44043600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:44042000-44066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:44042000-44066800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr15:44042000-44067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:44042200-44043600	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:44042200-44044200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:44042200-44044200	Weak transcription	A549	lung
33	chr15:44042200-44044400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:44042200-44044600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr15:44042200-44045000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:44042200-44045000	Weak transcription	Pancreas	Pancrea
37	chr15:44042200-44046000	Weak transcription	Colonic Mucosa	Colon
38	chr15:44042200-44046600	Weak transcription	Fetal Muscle Leg	muscle
39	chr15:44042200-44049600	Weak transcription	Gastric	stomach
40	chr15:44042200-44055400	Weak transcription	Aorta	Aorta
41	chr15:44042200-44067000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:44042400-44043600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr15:44042400-44043600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:44042400-44043600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:44042400-44043600	Weak transcription	HMEC	breast
46	chr15:44042400-44043800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:44042400-44044000	Genic enhancers	NHEK	skin
48	chr15:44042400-44045000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr15:44042400-44045000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr15:44042400-44046600	Weak transcription	Ovary	ovary

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