Variant report

Variant	rs189846518
Chromosome Location	chr19:35659650-35659651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35658697..35660776-chr19:35739212..35740943,2	K562	blood:
2	chr19:35659165..35661294-chr19:35670153..35671780,2	K562	blood:
3	chr19:35653833..35655711-chr19:35656998..35660022,4	K562	blood:
4	chr19:35658586..35660197-chr19:35739044..35740712,2	K562	blood:
5	chr19:35658538..35660564-chr19:35760467..35762500,2	K562	blood:
6	chr19:35658448..35660082-chr19:35706961..35709327,2	K562	blood:

Variant related genes	Relation type
ENSG00000105699	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000089327	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2757694	chr19:35653642-35673333	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758757	chr19:35653642-35673333	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv2470	chr19:35655281-35702565	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
8	esv3395817	chr19:35659112-35663810	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35648000-35661600	Strong transcription	H1 Cell Line	embryonic stem cell
2	chr19:35648000-35661800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:35652000-35661800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:35653400-35663800	Weak transcription	Stomach Mucosa	stomach
6	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:35653800-35661400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
9	chr19:35655600-35661400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:35657200-35660400	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr19:35657400-35662200	Weak transcription	Small Intestine	intestine
12	chr19:35657400-35663200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:35657600-35660200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:35657600-35660400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:35657600-35660600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr19:35657600-35661800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:35657600-35663000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:35657800-35660600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:35657800-35660600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:35657800-35661200	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr19:35657800-35661400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:35657800-35661800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:35657800-35661800	Strong transcription	NHLF	lung
25	chr19:35657800-35662800	Weak transcription	Fetal Intestine Large	intestine
26	chr19:35657800-35663400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr19:35657800-35663600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:35657800-35663800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
30	chr19:35658000-35659800	Genic enhancers	HMEC	breast
31	chr19:35658000-35660000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:35658000-35660400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:35658000-35660400	Weak transcription	Fetal Intestine Small	intestine
34	chr19:35658000-35660800	Genic enhancers	NHEK	skin
35	chr19:35658000-35661000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:35658000-35661600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:35658000-35662600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:35658000-35663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:35658000-35667000	Weak transcription	HSMM	muscle
40	chr19:35658200-35659800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr19:35658200-35659800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr19:35658200-35660400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:35658200-35660400	Weak transcription	Adipose Nuclei	Adipose
44	chr19:35658200-35660400	Enhancers	Hela-S3	cervix
45	chr19:35658200-35660800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:35658200-35660800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:35658200-35662600	Weak transcription	HUVEC	blood vessel
48	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr19:35658200-35666800	Weak transcription	Osteobl	bone
50	chr19:35658400-35660000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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