Variant report

Variant	rs6573897
Chromosome Location	chr14:70134971-70134972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70131947..70135119-chr14:70167812..70170384,3	K562	blood:
2	chr14:70125594..70128080-chr14:70133461..70135976,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1109652	0.87[ASN][1000 genomes]
rs12435686	0.80[ASN][1000 genomes]
rs12589913	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12895185	0.89[ASN][1000 genomes]
rs2152373	0.89[ASN][1000 genomes]
rs2224541	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899308	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4902747	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573902	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7146578	0.90[ASN][1000 genomes]
rs8008410	0.89[ASN][1000 genomes]
rs875424	0.90[ASN][1000 genomes]
rs943275	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs945311	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70123800-70137600	Weak transcription	Dnd41	blood
3	chr14:70127200-70139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:70127400-70137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:70127600-70135000	Enhancers	Adipose Nuclei	Adipose
6	chr14:70127600-70135000	Enhancers	Psoas Muscle	Psoas
7	chr14:70128200-70140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:70128400-70136200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:70128400-70138000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70128400-70138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:70128600-70137800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:70129000-70137000	Enhancers	Small Intestine	intestine
13	chr14:70129200-70135000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:70129800-70138200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr14:70130000-70138000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:70130000-70148800	Weak transcription	NHEK	skin
17	chr14:70130200-70135000	Enhancers	Fetal Muscle Leg	muscle
18	chr14:70130200-70135200	Enhancers	Right Atrium	heart
19	chr14:70130200-70136800	Weak transcription	Fetal Kidney	kidney
20	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:70130400-70136600	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:70130400-70138200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:70130400-70139200	Weak transcription	Gastric	stomach
24	chr14:70131000-70139400	Weak transcription	Thymus	Thymus
25	chr14:70131200-70135000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:70131200-70135000	Enhancers	Brain Hippocampus Middle	brain
27	chr14:70131200-70135000	Enhancers	Brain Substantia Nigra	brain
28	chr14:70132000-70136400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:70132200-70137400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:70132400-70135000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:70132400-70135000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr14:70132400-70137400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:70133000-70135000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr14:70133000-70136000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:70133000-70136400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:70133000-70136800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:70133000-70137000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr14:70133000-70137600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:70133200-70135000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr14:70133200-70135000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:70133200-70135800	Enhancers	Primary hematopoietic stem cells	blood
42	chr14:70133400-70135000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr14:70133600-70135000	Genic enhancers	Primary T cells from cord blood	blood
44	chr14:70133600-70135000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:70133600-70135000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr14:70133600-70135000	Enhancers	Colonic Mucosa	Colon
47	chr14:70133600-70135000	Enhancers	Placenta	Placenta
48	chr14:70133600-70135000	Enhancers	Left Ventricle	heart
49	chr14:70133600-70135000	Enhancers	Lung	lung
50	chr14:70133600-70135000	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links