Variant report

Variant	rs4995269
Chromosome Location	chr15:75402464-75402465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75397784..75400283-chr15:75400579..75402865,2	MCF-7	breast:
2	chr15:75337715..75339943-chr15:75401939..75403865,2	MCF-7	breast:
3	chr15:75397387..75399012-chr15:75399789..75402626,2	MCF-7	breast:
4	chr15:75385877..75388266-chr15:75401356..75403142,2	K562	blood:
5	chr15:75400646..75403509-chr15:75493261..75495577,2	MCF-7	breast:
6	chr15:75400403..75403303-chr15:75403990..75407305,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167173	Chromatin interaction
ENSG00000260152	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10851877	0.81[EUR][1000 genomes]
rs11638746	0.85[EUR][1000 genomes]
rs4381563	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4421941	0.85[EUR][1000 genomes]
rs4886656	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886657	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59390721	0.85[EUR][1000 genomes]
rs7166695	0.85[EUR][1000 genomes]
rs72730598	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8029092	0.98[EUR][1000 genomes]
rs902476	0.91[EUR][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	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75395400-75403400	Enhancers	Placenta	Placenta
2	chr15:75395600-75405800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:75396600-75405600	Enhancers	Primary hematopoietic stem cells	blood
4	chr15:75396600-75406200	Enhancers	Primary B cells from cord blood	blood
5	chr15:75397000-75403600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:75397600-75406800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:75397600-75415800	Weak transcription	Ovary	ovary
8	chr15:75398000-75403000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:75398000-75403200	Weak transcription	Pancreas	Pancrea
10	chr15:75400000-75403000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:75400000-75403000	Enhancers	HSMM	muscle
12	chr15:75400200-75403600	Enhancers	Dnd41	blood
13	chr15:75400400-75404400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:75400400-75404600	Enhancers	Fetal Thymus	thymus
15	chr15:75400600-75402600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:75400600-75402800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr15:75400600-75402800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:75400600-75403000	Enhancers	HSMMtube	muscle
19	chr15:75400600-75403200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr15:75400600-75403200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:75400600-75403800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:75400800-75402600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:75400800-75402600	Enhancers	Thymus	Thymus
24	chr15:75400800-75403000	Enhancers	Esophagus	oesophagus
25	chr15:75400800-75403600	Enhancers	Fetal Muscle Trunk	muscle
26	chr15:75400800-75403600	Enhancers	Fetal Muscle Leg	muscle
27	chr15:75400800-75403800	Enhancers	Spleen	Spleen
28	chr15:75401000-75403400	Weak transcription	K562	blood
29	chr15:75401000-75404400	Enhancers	GM12878-XiMat	blood
30	chr15:75401000-75405000	Weak transcription	Adipose Nuclei	Adipose
31	chr15:75401200-75403000	Weak transcription	Fetal Stomach	stomach
32	chr15:75401200-75403200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr15:75401200-75430600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:75401400-75402600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr15:75401400-75403600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:75401400-75404400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:75401600-75402800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr15:75401600-75403200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr15:75401600-75404800	Weak transcription	HepG2	liver
40	chr15:75401800-75402600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:75401800-75404400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr15:75401800-75408000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:75402000-75404400	Weak transcription	Fetal Intestine Large	intestine
44	chr15:75402200-75402600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr15:75402200-75402600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:75402200-75403200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:75402200-75404400	Weak transcription	Hela-S3	cervix
48	chr15:75402200-75406000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:75402400-75403600	Enhancers	Brain Hippocampus Middle	brain
50	chr15:75402400-75404400	Weak transcription	Fetal Intestine Small	intestine

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