Variant report

Variant	rs11847153
Chromosome Location	chr14:105779165-105779166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105779163-105779355	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105778405..105782273-chr14:105864844..105868439,3	K562	blood:
2	chr14:105765307..105769571-chr14:105774220..105784135,13	K562	blood:
3	chr14:105765282..105769482-chr14:105778355..105784135,18	K562	blood:

Variant related genes	Relation type
PACS2	TF binding region
ENSG00000185024	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000226174	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10132353	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs10132438	1.00[ASN][1000 genomes]
rs10135362	1.00[ASN][1000 genomes]
rs10141048	1.00[ASN][1000 genomes]
rs10142682	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10147378	1.00[ASN][1000 genomes]
rs10147674	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10148379	1.00[ASN][1000 genomes]
rs10148455	1.00[ASN][1000 genomes]
rs10148890	0.80[YRI][hapmap]
rs11847295	0.92[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847920	0.80[YRI][hapmap]
rs11849421	1.00[ASN][1000 genomes]
rs12101178	0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28378394	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28545538	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28569215	1.00[ASN][1000 genomes]
rs28589825	0.83[AMR][1000 genomes]
rs57000673	1.00[ASN][1000 genomes]
rs57229884	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58816330	0.83[ASN][1000 genomes]
rs59143495	1.00[ASN][1000 genomes]
rs60545468	1.00[ASN][1000 genomes]
rs60719574	0.83[AMR][1000 genomes]
rs6576084	0.83[ASN][1000 genomes]
rs7144362	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7146660	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs73357391	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73357398	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73359013	0.83[AMR][1000 genomes]
rs73359015	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73359017	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73359035	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359049	1.00[ASN][1000 genomes]
rs73359058	0.83[AMR][1000 genomes]
rs73359059	0.83[AMR][1000 genomes]
rs73359061	0.83[AMR][1000 genomes]
rs73359066	0.83[AMR][1000 genomes]
rs73359072	0.83[AMR][1000 genomes]
rs8004328	0.85[AMR][1000 genomes]
rs8010649	1.00[ASN][1000 genomes]
rs8021520	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8021663	0.83[AMR][1000 genomes]
rs9671782	0.83[ASN][1000 genomes]
rs9671890	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
8	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
14	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv1052355	chr14:105718240-105789157	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
20	nsv566187	chr14:105756485-105780704	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
21	nsv566188	chr14:105771428-105780920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
22	nsv566190	chr14:105773028-105780983	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105768200-105779400	Weak transcription	Colonic Mucosa	Colon
2	chr14:105768200-105779400	Weak transcription	Thymus	Thymus
3	chr14:105768200-105779600	Weak transcription	GM12878-XiMat	blood
4	chr14:105768200-105779800	Weak transcription	NHLF	lung
5	chr14:105768200-105780000	Weak transcription	NHDF-Ad	bronchial
6	chr14:105768200-105780200	Weak transcription	Gastric	stomach
7	chr14:105768200-105780200	Weak transcription	Right Atrium	heart
8	chr14:105768400-105779200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:105768400-105779400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:105768400-105779800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:105768400-105779800	Weak transcription	Lung	lung
12	chr14:105768400-105780200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:105770800-105779600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:105771400-105780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:105771600-105780000	Weak transcription	K562	blood
16	chr14:105772200-105779800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:105772200-105780000	Weak transcription	Primary T cells from cord blood	blood
18	chr14:105772400-105779400	Weak transcription	Spleen	Spleen
19	chr14:105772400-105779800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:105772400-105779800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:105772600-105779400	Weak transcription	Fetal Thymus	thymus
22	chr14:105773800-105779800	Weak transcription	Fetal Intestine Small	intestine
23	chr14:105774000-105779400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:105774200-105780000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:105774200-105780200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:105776000-105780000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:105776000-105780000	Weak transcription	NHEK	skin
28	chr14:105776200-105780000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:105776200-105780000	Weak transcription	HMEC	breast
30	chr14:105777400-105779800	Weak transcription	Dnd41	blood
31	chr14:105777600-105779600	Enhancers	Brain Hippocampus Middle	brain
32	chr14:105777600-105779800	Enhancers	Brain Cingulate Gyrus	brain
33	chr14:105777800-105779600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:105778000-105779200	Enhancers	Stomach Smooth Muscle	stomach
35	chr14:105778000-105779400	Enhancers	Brain Anterior Caudate	brain
36	chr14:105778000-105779400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr14:105778000-105779800	Enhancers	Brain Substantia Nigra	brain
38	chr14:105778000-105780200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:105778000-105780200	Enhancers	Fetal Stomach	stomach
40	chr14:105778200-105779800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:105778200-105780000	Enhancers	Fetal Muscle Leg	muscle
42	chr14:105778200-105780200	Enhancers	Fetal Muscle Trunk	muscle
43	chr14:105778400-105779800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:105778400-105780200	Weak transcription	Right Ventricle	heart
45	chr14:105778600-105779400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:105778600-105779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:105778600-105779800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:105778600-105779800	Weak transcription	Pancreas	Pancrea
49	chr14:105778600-105780000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr14:105778600-105780000	Enhancers	Brain Angular Gyrus	brain

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