Variant report

Variant	rs79332246
Chromosome Location	chr19:44144861-44144862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr19:44144860-44144961	K562	blood:	n/a	chr19:44144904-44144914 chr19:44144904-44144913 chr19:44144903-44144915 chr19:44144903-44144914 chr19:44144905-44144914
2	POLR2A	chr19:44143760-44145045	HepG2	liver:	n/a	n/a
3	JUND	chr19:44144730-44145093	HepG2	liver:	n/a	chr19:44144904-44144914 chr19:44144904-44144913 chr19:44144903-44144915 chr19:44144903-44144914 chr19:44144905-44144914

No.	Distal block	Cell Line	Cell type
1	chr19:44142549..44145039-chr19:44172421..44174578,2	MCF-7	breast:
2	chr19:44143944..44145694-chr19:44172387..44174161,2	MCF-7	breast:
3	chr19:44139192..44141813-chr19:44144492..44146172,2	MCF-7	breast:
4	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
5	chr19:44122624..44125256-chr19:44141958..44145749,5	MCF-7	breast:
6	chr19:44143848..44146165-chr19:44171493..44174030,3	K562	blood:
7	chr19:44144072..44146959-chr19:44160581..44162332,2	MCF-7	breast:
8	chr19:44143406..44146165-chr19:44170107..44174030,3	K562	blood:
9	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
10	chr19:44077932..44081099-chr19:44141868..44144910,3	MCF-7	breast:
11	chr19:44098824..44101950-chr19:44142073..44145770,3	K562	blood:
12	chr19:44144010..44147763-chr19:44150755..44153654,4	MCF-7	breast:

Variant related genes	Relation type
CADM4	TF binding region
ENSG00000167378	Chromatin interaction
ENSG00000234465	Chromatin interaction
ENSG00000269583	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000073050	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3324628	chr19:44142737-44145285	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv579852	chr19:44142771-44149449	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv3365982	chr19:44143062-44144960	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44142600-44145000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr19:44142800-44145000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:44142800-44145000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:44143000-44145000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:44143400-44145000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:44144200-44145000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:44144200-44145000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
8	chr19:44144200-44145000	Flanking Active TSS	Pancreas	Pancrea
9	chr19:44144200-44145000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr19:44144400-44145000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:44144400-44145000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:44144400-44145000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:44144400-44145000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:44144400-44145000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:44144400-44145000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:44144400-44145000	Enhancers	Fetal Heart	heart
17	chr19:44144400-44145000	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr19:44144400-44145200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr19:44144400-44145200	Flanking Active TSS	Fetal Brain Female	brain
20	chr19:44144400-44153000	Weak transcription	Aorta	Aorta
21	chr19:44144600-44145000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:44144600-44145000	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr19:44144600-44145000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:44144600-44145000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:44144600-44145000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:44144600-44145000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:44144600-44145000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:44144600-44145000	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr19:44144600-44145000	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr19:44144600-44145000	Enhancers	Gastric	stomach
31	chr19:44144600-44145000	Enhancers	Left Ventricle	heart
32	chr19:44144600-44145000	Enhancers	Lung	lung
33	chr19:44144600-44145000	Bivalent Enhancer	Psoas Muscle	Psoas
34	chr19:44144600-44145000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
35	chr19:44144600-44145000	Enhancers	Right Ventricle	heart
36	chr19:44144600-44145000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr19:44144600-44145000	Enhancers	Spleen	Spleen
38	chr19:44144600-44145000	Bivalent Enhancer	HUVEC	blood vessel
39	chr19:44144600-44145000	Bivalent Enhancer	NH-A	brain
40	chr19:44144600-44145000	Bivalent Enhancer	NHEK	skin
41	chr19:44144600-44145000	Bivalent Enhancer	NHLF	lung
42	chr19:44144600-44145200	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr19:44144600-44162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:44144800-44145000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr19:44144800-44145000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr19:44144800-44145000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr19:44144800-44145000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:44144800-44145000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:44144800-44145000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr19:44144800-44145000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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