Variant report

Variant	rs8010430
Chromosome Location	chr14:68968984-68968985
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68957700..68966900-chr14:68968037..68976020,15	MCF-7	breast:
2	chr14:68968310..68970702-chr14:68984207..68986493,2	MCF-7	breast:
3	chr14:68968741..68971130-chr14:68972103..68973954,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2525507	0.92[ASN][1000 genomes]
rs2842320	0.92[ASN][1000 genomes]
rs4899243	1.00[ASN][1000 genomes]
rs66597987	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140827	1.00[ASN][1000 genomes]
rs72727487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68951000-68969400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:68956800-68971800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:68960200-68969600	Weak transcription	Fetal Intestine Large	intestine
4	chr14:68960400-68969600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:68960400-68971000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:68960400-68971400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:68960400-68971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:68960400-68971800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:68962000-68972000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:68962200-68969400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:68962200-68971000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:68962800-68972600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:68963200-68972600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:68965000-68971000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:68965400-68974400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:68965400-68976800	Enhancers	Fetal Thymus	thymus
17	chr14:68965800-68973200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:68966000-68970400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:68966400-68970000	Enhancers	Spleen	Spleen
20	chr14:68967000-68969000	Enhancers	HUVEC	blood vessel
21	chr14:68967400-68973200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:68967400-68973600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr14:68967400-68981600	Enhancers	Fetal Muscle Leg	muscle
24	chr14:68967400-68982400	Enhancers	Primary B cells from peripheral blood	blood
25	chr14:68967600-68969000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr14:68967600-68969000	Enhancers	Pancreas	Pancrea
27	chr14:68967600-68970000	Enhancers	Lung	lung
28	chr14:68967600-68970200	Enhancers	Fetal Muscle Trunk	muscle
29	chr14:68967600-68972800	Enhancers	Primary T cells from cord blood	blood
30	chr14:68967600-68973000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr14:68967600-68973200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr14:68967600-68973800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:68967600-68974200	Enhancers	Placenta	Placenta
34	chr14:68967800-68969000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr14:68967800-68969600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:68967800-68969800	Enhancers	Fetal Heart	heart
37	chr14:68967800-68970000	Enhancers	Esophagus	oesophagus
38	chr14:68967800-68974400	Enhancers	Fetal Stomach	stomach
39	chr14:68968000-68969800	Enhancers	Left Ventricle	heart
40	chr14:68968000-68991200	Enhancers	Fetal Lung	lung
41	chr14:68968200-68969000	Enhancers	Gastric	stomach
42	chr14:68968200-68969000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr14:68968200-68969200	Weak transcription	Brain Germinal Matrix	brain
44	chr14:68968200-68969600	Enhancers	Primary B cells from cord blood	blood
45	chr14:68968200-68969800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:68968200-68971400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:68968200-68973200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr14:68968200-68973600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr14:68968400-68969000	Enhancers	Duodenum Mucosa	Duodenum
50	chr14:68968400-68970200	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links