Variant report

Variant	rs139147386
Chromosome Location	chr19:44031223-44031224
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44029421..44031405-chr19:44036593..44038198,2	K562	blood:
2	chr19:44029247..44034379-chr19:44035166..44038879,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176472	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	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
13	nsv912107	chr19:44030998-44055726	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44028800-44031800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr19:44028800-44031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44029000-44031800	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr19:44029000-44032000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr19:44029200-44031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:44029200-44032000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:44029200-44032000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:44029200-44032000	Active TSS	Fetal Intestine Large	intestine
9	chr19:44029400-44031400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr19:44029400-44031600	Active TSS	Fetal Intestine Small	intestine
11	chr19:44029400-44031800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr19:44029400-44031800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:44029400-44031800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:44029400-44032000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr19:44029400-44032200	Active TSS	Esophagus	oesophagus
16	chr19:44029400-44032200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr19:44029400-44032400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:44029600-44031400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:44029600-44031600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr19:44029600-44031600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:44029600-44031800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr19:44029600-44031800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr19:44029600-44031800	Active TSS	Fetal Kidney	kidney
24	chr19:44029600-44032200	Flanking Active TSS	Dnd41	blood
25	chr19:44029600-44032200	Active TSS	NHLF	lung
26	chr19:44029800-44031600	Active TSS	Small Intestine	intestine
27	chr19:44029800-44031600	Active TSS	Hela-S3	cervix
28	chr19:44029800-44031800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr19:44029800-44031800	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr19:44029800-44031800	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr19:44029800-44031800	Active TSS	Aorta	Aorta
32	chr19:44029800-44031800	Active TSS	HMEC	breast
33	chr19:44029800-44032000	Active TSS	NHEK	skin
34	chr19:44030000-44031600	Active TSS	Gastric	stomach
35	chr19:44030000-44031600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr19:44030000-44031800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr19:44030000-44031800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr19:44030000-44031800	Active TSS	Colon Smooth Muscle	Colon
39	chr19:44030000-44031800	Active TSS	Ovary	ovary
40	chr19:44030000-44031800	Active TSS	GM12878-XiMat	blood
41	chr19:44030000-44031800	Active TSS	HSMM	muscle
42	chr19:44030000-44031800	Active TSS	HSMMtube	muscle
43	chr19:44030000-44032000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr19:44030000-44032000	Active TSS	Rectal Smooth Muscle	rectum
45	chr19:44030000-44032000	Active TSS	NHDF-Ad	bronchial
46	chr19:44030200-44031600	Active TSS	Duodenum Mucosa	Duodenum
47	chr19:44030200-44031800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr19:44030200-44031800	Active TSS	A549	lung
49	chr19:44030200-44032000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:44030200-44032200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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