Variant report

Variant	rs11638544
Chromosome Location	chr15:75473490-75473491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75469534..75474777-chr15:75492822..75496497,7	MCF-7	breast:
2	chr15:75463364..75465146-chr15:75473364..75475576,2	K562	blood:

Variant related genes	Relation type
ENSG00000167173	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11636133	0.81[EUR][1000 genomes]
rs2130718	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75466400-75475600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr15:75469800-75475600	Enhancers	Fetal Heart	heart
3	chr15:75470000-75473600	Enhancers	Fetal Lung	lung
4	chr15:75470000-75475200	Enhancers	NHDF-Ad	bronchial
5	chr15:75470200-75475800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr15:75470400-75475400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:75470800-75473600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:75471200-75475400	Enhancers	Ovary	ovary
9	chr15:75471400-75474600	Weak transcription	HUVEC	blood vessel
10	chr15:75471400-75475600	Enhancers	Fetal Intestine Large	intestine
11	chr15:75471400-75475600	Enhancers	Fetal Intestine Small	intestine
12	chr15:75471600-75473600	Enhancers	Fetal Stomach	stomach
13	chr15:75471600-75473600	Enhancers	Rectal Smooth Muscle	rectum
14	chr15:75471600-75473600	Enhancers	K562	blood
15	chr15:75471600-75475400	Enhancers	Duodenum Mucosa	Duodenum
16	chr15:75471600-75475600	Enhancers	Primary hematopoietic stem cells	blood
17	chr15:75471800-75473600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:75471800-75473600	Enhancers	Brain Germinal Matrix	brain
19	chr15:75471800-75474200	Weak transcription	Small Intestine	intestine
20	chr15:75471800-75475000	Enhancers	Colon Smooth Muscle	Colon
21	chr15:75471800-75475400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr15:75471800-75475400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr15:75471800-75475600	Enhancers	Fetal Thymus	thymus
24	chr15:75471800-75475600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:75471800-75476800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:75472000-75473600	Enhancers	Stomach Smooth Muscle	stomach
27	chr15:75472000-75474600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:75472000-75474800	Weak transcription	Fetal Kidney	kidney
29	chr15:75472000-75475400	Enhancers	Stomach Mucosa	stomach
30	chr15:75472000-75475600	Enhancers	Fetal Muscle Leg	muscle
31	chr15:75472400-75474200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:75472400-75474200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:75472600-75473600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:75472600-75473600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr15:75472600-75473600	Enhancers	A549	lung
36	chr15:75472600-75473600	Enhancers	HSMM	muscle
37	chr15:75472600-75473600	Enhancers	HSMMtube	muscle
38	chr15:75472600-75474200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:75472600-75474800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:75472800-75475600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr15:75473000-75474400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:75473000-75474600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:75473000-75477800	Weak transcription	Right Ventricle	heart
44	chr15:75473000-75478800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:75473000-75487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:75473200-75474200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:75473200-75474200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:75473200-75474200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:75473200-75474200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:75473200-75474200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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