Variant report

Variant	rs543479915
Chromosome Location	chr19:18977570-18977571
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18976801..18979191-chr19:18979322..18983754,5	MCF-7	breast:
2	chr19:18976763..18977741-chr19:19007184..19008142,2	MCF-7	breast:
3	chr19:18963646..18965570-chr19:18977086..18979214,2	K562	blood:
4	chr19:18941414..18944401-chr19:18975795..18980469,5	MCF-7	breast:
5	chr19:18977021..18977863-chr19:19051957..19052867,2	MCF-7	breast:
6	chr19:18976765..18981353-chr19:18988726..18992565,5	K562	blood:
7	chr19:18971565..18973286-chr19:18974759..18978093,5	MCF-7	breast:
8	chr19:18977248..18977957-chr19:19026218..19027076,2	MCF-7	breast:
9	chr19:18975867..18978694-chr19:18984023..18986004,2	MCF-7	breast:
10	chr19:18977071..18977951-chr19:19051666..19052520,2	K562	blood:
11	chr19:18976234..18978409-chr19:19004531..19006846,2	MCF-7	breast:
12	chr19:18977329..18979019-chr19:18979080..18981644,2	MCF-7	breast:
13	chr19:18882176..18882866-chr19:18977411..18977945,2	MCF-7	breast:
14	chr19:18977096..18978227-chr19:19097259..19098244,6	K562	blood:
15	chr19:18977079..18977984-chr19:19097300..19098157,3	MCF-7	breast:
16	chr19:18977453..18979163-chr19:18981290..18984197,2	K562	blood:
17	chr19:18977344..18982900-chr19:19025214..19031477,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223802	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000269694	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000105671	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911299	chr19:18939954-18984843	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv828473	chr19:18975130-18994875	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv828474	chr19:18975942-18978783	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv828477	chr19:18977150-18977683	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	esv3338528	chr19:18977552-18981950	Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18953200-18977600	Weak transcription	Fetal Heart	heart
2	chr19:18954800-18979800	Strong transcription	Dnd41	blood
3	chr19:18956200-18978400	Strong transcription	Thymus	Thymus
4	chr19:18958400-18977600	Strong transcription	Fetal Intestine Large	intestine
5	chr19:18958400-18979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:18958400-18979200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:18958400-18979400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr19:18958400-18979400	Strong transcription	Primary T cells from cord blood	blood
9	chr19:18958400-18979400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:18958400-18980200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:18958600-18979000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:18958600-18979200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:18958600-18979400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:18958600-18979600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:18958800-18979200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr19:18958800-18979200	Strong transcription	Brain Germinal Matrix	brain
17	chr19:18959000-18979000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:18959000-18979000	Strong transcription	Gastric	stomach
19	chr19:18959200-18979200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr19:18959800-18978800	Strong transcription	Fetal Brain Female	brain
21	chr19:18960000-18979400	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr19:18960400-18977600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:18960400-18978600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:18960400-18978800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:18960400-18979200	Strong transcription	Fetal Intestine Small	intestine
26	chr19:18960600-18979000	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr19:18960600-18979200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:18960600-18979400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:18960600-18979600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:18960600-18982600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:18960800-18979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:18960800-18979400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:18960800-18979400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:18961000-18979200	Strong transcription	Osteobl	bone
35	chr19:18961000-18979400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:18961000-18979600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr19:18961000-18979600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:18961200-18979400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:18961200-18979400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:18961400-18979600	Strong transcription	Aorta	Aorta
41	chr19:18961600-18979400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr19:18961600-18979800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:18961600-18979800	Strong transcription	NHLF	lung
44	chr19:18961600-18980800	Strong transcription	Pancreas	Pancrea
45	chr19:18961800-18979000	Strong transcription	Rectal Smooth Muscle	rectum
46	chr19:18961800-18979400	Strong transcription	NHDF-Ad	bronchial
47	chr19:18962200-18979000	Strong transcription	Colon Smooth Muscle	Colon
48	chr19:18962200-18979000	Strong transcription	NHEK	skin
49	chr19:18962200-18979600	Weak transcription	Right Atrium	heart
50	chr19:18962200-18979800	Strong transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links