Variant report

Variant	rs60175550
Chromosome Location	chr19:44063815-44063816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44063536..44067996-chr19:44097389..44100718,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124444	Chromatin interaction
ENSG00000167378	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs168310	1.00[ASN][1000 genomes]
rs2854497	1.00[ASN][1000 genomes]
rs3213293	0.88[AMR][1000 genomes]
rs3213316	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3213321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3213322	1.00[ASN][1000 genomes]
rs3213348	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34439296	1.00[ASN][1000 genomes]
rs34471331	1.00[ASN][1000 genomes]
rs346049	1.00[ASN][1000 genomes]
rs399300	1.00[ASN][1000 genomes]
rs4251895	1.00[ASN][1000 genomes]
rs4251915	1.00[ASN][1000 genomes]
rs56204051	1.00[ASN][1000 genomes]
rs57817750	1.00[ASN][1000 genomes]
rs60273962	1.00[ASN][1000 genomes]
rs60889018	1.00[ASN][1000 genomes]
rs7257640	1.00[ASN][1000 genomes]
rs73554667	1.00[ASN][1000 genomes]
rs73554679	1.00[ASN][1000 genomes]
rs73554696	1.00[ASN][1000 genomes]
rs73556510	0.88[AMR][1000 genomes]
rs73556565	1.00[ASN][1000 genomes]
rs73556581	1.00[ASN][1000 genomes]
rs8104645	1.00[ASN][1000 genomes]
rs8110767	1.00[ASN][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	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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 target site	62 gene(s)	inside rSNPs	diseases
11	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1063149	chr19:44059081-44087583	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44039200-44078600	Weak transcription	Hela-S3	cervix
2	chr19:44041800-44065200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:44043200-44064600	Weak transcription	NHDF-Ad	bronchial
4	chr19:44043600-44065800	Strong transcription	Adipose Nuclei	Adipose
5	chr19:44043800-44065800	Weak transcription	Fetal Heart	heart
6	chr19:44043800-44074000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:44044600-44069000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44047400-44066600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:44048200-44067000	Weak transcription	HUVEC	blood vessel
10	chr19:44048400-44078800	Weak transcription	Small Intestine	intestine
11	chr19:44052800-44068400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:44053000-44064800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:44053000-44065600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr19:44053000-44066200	Strong transcription	Fetal Muscle Leg	muscle
15	chr19:44053200-44064600	Weak transcription	K562	blood
16	chr19:44053400-44068800	Strong transcription	Fetal Intestine Small	intestine
17	chr19:44053400-44069400	Strong transcription	Fetal Stomach	stomach
18	chr19:44053600-44068600	Strong transcription	Fetal Intestine Large	intestine
19	chr19:44054000-44065600	Strong transcription	Placenta	Placenta
20	chr19:44056000-44066600	Weak transcription	Psoas Muscle	Psoas
21	chr19:44056400-44064600	Weak transcription	Aorta	Aorta
22	chr19:44056400-44064800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:44056400-44066400	Weak transcription	Stomach Mucosa	stomach
24	chr19:44057200-44067000	Weak transcription	Fetal Brain Male	brain
25	chr19:44057600-44071200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr19:44057800-44078800	Weak transcription	HSMMtube	muscle
27	chr19:44058200-44064800	Weak transcription	NHEK	skin
28	chr19:44058400-44071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:44058600-44078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:44058800-44064600	Weak transcription	Brain Substantia Nigra	brain
31	chr19:44059000-44064400	Weak transcription	Left Ventricle	heart
32	chr19:44059000-44064600	Weak transcription	Gastric	stomach
33	chr19:44059000-44064800	Weak transcription	Ovary	ovary
34	chr19:44059000-44065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:44059000-44076000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:44059200-44064000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:44059200-44064600	Weak transcription	Pancreas	Pancrea
38	chr19:44059200-44064800	Weak transcription	Esophagus	oesophagus
39	chr19:44059200-44065000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr19:44059200-44065000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:44059200-44065000	Weak transcription	Colonic Mucosa	Colon
42	chr19:44059200-44066600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr19:44059200-44066800	Weak transcription	HMEC	breast
44	chr19:44059200-44078800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:44059400-44064800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr19:44059400-44065200	Weak transcription	A549	lung
47	chr19:44059400-44066600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:44059800-44064600	Weak transcription	Brain Angular Gyrus	brain
49	chr19:44059800-44064800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:44059800-44065000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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