Variant report

Variant	rs74036595
Chromosome Location	chr14:21559930-21559931
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21557595..21561276-chr14:21569876..21572764,3	K562	blood:
2	chr14:21558333..21560718-chr14:21562530..21564584,2	K562	blood:
3	chr14:21556089..21557892-chr14:21558812..21560908,3	K562	blood:
4	chr14:21325127..21326043-chr14:21559445..21560171,2	MCF-7	breast:
5	chr14:21482632..21483541-chr14:21559824..21561319,9	MCF-7	breast:
6	chr14:21482576..21484630-chr14:21559073..21560891,2	K562	blood:

Variant related genes	Relation type
ENSG00000232070	Chromatin interaction
ENSG00000165804	Chromatin interaction

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

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

rs_ID	r²[population]
rs2771314	1.00[AMR][1000 genomes]
rs2771357	1.00[AMR][1000 genomes]
rs73571930	1.00[AMR][1000 genomes]
rs73585979	1.00[AMR][1000 genomes]
rs74037713	1.00[AMR][1000 genomes]
rs74037714	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS 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	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv528337	chr14:21540863-21565189	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21541000-21561000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:21541200-21561400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:21541400-21560200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:21541400-21560200	Strong transcription	Placenta	Placenta
5	chr14:21541600-21560400	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:21542400-21560200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:21542400-21560400	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:21543800-21561400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:21544200-21562200	Weak transcription	K562	blood
10	chr14:21545200-21565600	Weak transcription	Psoas Muscle	Psoas
11	chr14:21546200-21560400	Strong transcription	Pancreas	Pancrea
12	chr14:21548200-21562000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:21551400-21562000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:21553400-21564400	Weak transcription	Right Atrium	heart
15	chr14:21554000-21560400	Strong transcription	HepG2	liver
16	chr14:21554000-21560600	Strong transcription	Fetal Intestine Small	intestine
17	chr14:21554000-21560800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:21554200-21560600	Strong transcription	Fetal Intestine Large	intestine
19	chr14:21555600-21560200	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr14:21555600-21560400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:21555800-21560600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr14:21555800-21560600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:21555800-21561200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:21555800-21565600	Weak transcription	HSMMtube	muscle
25	chr14:21555800-21566200	Weak transcription	HSMM	muscle
26	chr14:21556000-21560200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:21556000-21560400	Strong transcription	Fetal Stomach	stomach
28	chr14:21556000-21560600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:21556000-21560600	Strong transcription	Fetal Muscle Leg	muscle
30	chr14:21556000-21562400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:21556200-21560000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:21556200-21560400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:21556200-21560400	Strong transcription	Adipose Nuclei	Adipose
34	chr14:21556200-21560800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:21556200-21561000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:21556200-21561000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:21556200-21565400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:21556400-21560000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:21556400-21560400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:21556400-21560400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:21556400-21560400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:21556400-21560800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr14:21556400-21565200	Weak transcription	Primary T cells from cord blood	blood
44	chr14:21556400-21565600	Weak transcription	Primary B cells from cord blood	blood
45	chr14:21556600-21560000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:21556600-21560400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:21556600-21560400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr14:21556600-21560400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:21556600-21560400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:21556600-21560400	Strong transcription	Fetal Brain Female	brain

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