Variant report

Variant	rs6573896
Chromosome Location	chr14:70120554-70120555
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:70120478-70120697	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70077602..70079808-chr14:70118781..70121163,4	K562	blood:
2	chr14:70118595..70121036-chr14:70123489..70126542,3	K562	blood:
3	chr14:70114857..70122560-chr14:70122603..70126754,12	MCF-7	breast:
4	chr14:70085556..70087478-chr14:70119417..70121355,2	MCF-7	breast:
5	chr14:70113887..70117052-chr14:70117331..70121263,5	K562	blood:

No data

Variant related genes	Relation type
KIAA0247	TF binding region
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11844109	0.84[AFR][1000 genomes]
rs11844442	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11845451	1.00[AFR][1000 genomes]
rs11846535	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11847303	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11848538	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11849303	0.94[AFR][1000 genomes]
rs7155876	0.94[AFR][1000 genomes]
rs7156989	0.82[AFR][1000 genomes]
rs7160036	0.82[AFR][1000 genomes]
rs8004755	1.00[AFR][1000 genomes]
rs8009791	1.00[AFR][1000 genomes]
rs8014337	1.00[YRI][hapmap];1.00[AFR][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70108400-70121200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:70109000-70121400	Enhancers	Stomach Mucosa	stomach
4	chr14:70109400-70121200	Enhancers	Small Intestine	intestine
5	chr14:70109600-70121200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr14:70109800-70125400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:70110000-70122800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:70110200-70121400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr14:70110400-70121400	Enhancers	Primary B cells from peripheral blood	blood
10	chr14:70110400-70124600	Weak transcription	Fetal Brain Female	brain
11	chr14:70112600-70123600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr14:70113600-70120600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr14:70113600-70121200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:70113800-70121200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:70113800-70121200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:70114000-70121000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:70114000-70121000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr14:70114000-70121000	Enhancers	Adipose Nuclei	Adipose
19	chr14:70114000-70121200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:70114000-70121200	Enhancers	Right Ventricle	heart
21	chr14:70114000-70121200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr14:70114000-70121200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr14:70114000-70121400	Enhancers	Colonic Mucosa	Colon
24	chr14:70114000-70121800	Enhancers	Psoas Muscle	Psoas
25	chr14:70114000-70125000	Enhancers	Fetal Intestine Large	intestine
26	chr14:70114000-70126400	Enhancers	Left Ventricle	heart
27	chr14:70114200-70121000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr14:70114400-70121200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:70114400-70121200	Enhancers	Spleen	Spleen
30	chr14:70114800-70121400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:70115000-70121000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr14:70115000-70121000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:70115000-70121400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:70115200-70121400	Enhancers	HMEC	breast
35	chr14:70115400-70121800	Enhancers	Right Atrium	heart
36	chr14:70115600-70121200	Enhancers	Colon Smooth Muscle	Colon
37	chr14:70116000-70121200	Enhancers	Gastric	stomach
38	chr14:70116000-70121400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr14:70116000-70125800	Enhancers	Pancreas	Pancrea
40	chr14:70116200-70121400	Enhancers	A549	lung
41	chr14:70116200-70121800	Enhancers	Liver	Liver
42	chr14:70116400-70121000	Enhancers	Placenta	Placenta
43	chr14:70116400-70121200	Enhancers	Ovary	ovary
44	chr14:70116600-70122200	Enhancers	HepG2	liver
45	chr14:70116600-70130400	Weak transcription	Brain Germinal Matrix	brain
46	chr14:70116800-70121200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:70117000-70121600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr14:70117800-70120600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:70117800-70120800	Enhancers	Thymus	Thymus
50	chr14:70117800-70124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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