Variant report

Variant	rs557630542
Chromosome Location	chr19:35660830-35660831
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
2	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:
3	chr19:35659165..35661294-chr19:35670153..35671780,2	K562	blood:
4	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
5	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
6	chr19:35660696..35663351-chr19:35770755..35773033,2	K562	blood:

Variant related genes	Relation type
ENSG00000105697	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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
9	esv3503601	chr19:35659912-35666960	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv3503603	chr19:35660362-35666860	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv516540	chr19:35660450-35685536	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3503604	chr19:35660647-35665984	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv579358	chr19:35660670-35663733	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv579359	chr19:35660752-35665515	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv579360	chr19:35660752-35665573	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv9709	chr19:35660761-35667329	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 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	chr19:35657400-35662200	Weak transcription	Small Intestine	intestine
11	chr19:35657400-35663200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:35657600-35661800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:35657600-35663000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:35657800-35661200	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr19:35657800-35661400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:35657800-35661800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:35657800-35661800	Strong transcription	NHLF	lung
19	chr19:35657800-35662800	Weak transcription	Fetal Intestine Large	intestine
20	chr19:35657800-35663400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr19:35657800-35663600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:35657800-35663800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
24	chr19:35658000-35661000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:35658000-35661600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:35658000-35662600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:35658000-35663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:35658000-35667000	Weak transcription	HSMM	muscle
29	chr19:35658200-35662600	Weak transcription	HUVEC	blood vessel
30	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:35658200-35666800	Weak transcription	Osteobl	bone
32	chr19:35658400-35661600	Strong transcription	Spleen	Spleen
33	chr19:35658400-35661800	Strong transcription	Thymus	Thymus
34	chr19:35658400-35662600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr19:35658400-35663200	Weak transcription	Aorta	Aorta
36	chr19:35658400-35664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:35658800-35661400	Weak transcription	NHDF-Ad	bronchial
38	chr19:35658800-35661800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:35658800-35661800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:35658800-35662000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:35658800-35667200	Weak transcription	NH-A	brain
42	chr19:35659000-35661000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:35659000-35661200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr19:35659200-35661000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr19:35659200-35661000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:35659200-35661600	Enhancers	Liver	Liver
47	chr19:35659200-35661800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:35659400-35661200	Weak transcription	Fetal Thymus	thymus
49	chr19:35659400-35662200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr19:35659400-35662200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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