Variant report

Variant	rs1957571
Chromosome Location	chr14:68731157-68731158
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68730473..68732324-chr14:69259728..69262117,2	MCF-7	breast:
2	chr14:68729728..68732585-chr14:69261709..69264377,2	MCF-7	breast:
3	chr14:68721361..68723565-chr14:68729785..68732036,2	MCF-7	breast:
4	chr14:68722518..68726023-chr14:68727697..68732553,5	K562	blood:
5	chr14:68729921..68731591-chr14:68760748..68763358,2	MCF-7	breast:
6	chr14:68730539..68732765-chr14:68733747..68736318,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11846733	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847821	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11849946	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105291	0.94[AFR][1000 genomes]
rs4899235	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902563	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60324261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61274387	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68722400-68739800	Weak transcription	Gastric	stomach
2	chr14:68723400-68736000	Weak transcription	Aorta	Aorta
3	chr14:68725000-68731200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:68725400-68731200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:68725400-68731200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:68725400-68731400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:68725400-68731600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:68725400-68731800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:68726000-68734600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:68726400-68731800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:68727400-68732200	Enhancers	Fetal Lung	lung
12	chr14:68728200-68731600	Enhancers	Primary T cells from cord blood	blood
13	chr14:68728200-68731800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr14:68728400-68731200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:68728400-68733000	Enhancers	GM12878-XiMat	blood
16	chr14:68728600-68731600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:68728600-68731800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:68728600-68731800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:68728800-68732000	Weak transcription	Primary B cells from cord blood	blood
20	chr14:68729000-68734400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:68729200-68732800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:68729200-68733600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:68729200-68749400	Weak transcription	Lung	lung
24	chr14:68729400-68731600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:68729400-68734800	Weak transcription	Thymus	Thymus
26	chr14:68729600-68731800	Enhancers	HUVEC	blood vessel
27	chr14:68729800-68731200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr14:68729800-68731600	Enhancers	Fetal Muscle Leg	muscle
29	chr14:68729800-68731800	Enhancers	Fetal Stomach	stomach
30	chr14:68730000-68731200	Enhancers	Adipose Nuclei	Adipose
31	chr14:68730000-68731600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:68730000-68731600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:68730000-68734200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:68730000-68734400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:68730000-68734400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:68730000-68734600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:68730000-68734600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:68730000-68745000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:68730200-68731200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:68730200-68734600	Weak transcription	Fetal Thymus	thymus
41	chr14:68730400-68731200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr14:68730400-68731200	Enhancers	NHDF-Ad	bronchial
43	chr14:68730400-68731600	Enhancers	Fetal Intestine Small	intestine
44	chr14:68730400-68731800	Enhancers	Fetal Kidney	kidney
45	chr14:68730600-68731200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr14:68730600-68731200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:68730600-68731200	Enhancers	Small Intestine	intestine
48	chr14:68730600-68731800	Enhancers	Fetal Intestine Large	intestine
49	chr14:68730600-68732800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:68730800-68731200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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