Variant report

Variant	rs35496194
Chromosome Location	chr14:104031351-104031352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
2	chr14:103986804..103989544-chr14:104030581..104032325,2	K562	blood:
3	chr14:104026574..104032100-chr14:104033737..104038565,9	MCF-7	breast:
4	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256053	Chromatin interaction
ENSG00000269963	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000201184	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10431750	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844466	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11851000	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11851616	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12887734	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12889403	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889721	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12890820	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892038	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12894729	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274267	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403196	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403197	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2896487	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34026011	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34186780	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34843146	0.80[ASN][1000 genomes]
rs34896432	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35026580	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35229468	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35498576	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4525427	0.82[ASN][1000 genomes]
rs4906335	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906336	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906337	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906338	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55751606	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57072546	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58033365	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60249782	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67899457	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7140568	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417868	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148456	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017628	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017993	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104030000-104031400	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr14:104030000-104032800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:104030000-104045000	Weak transcription	Aorta	Aorta
4	chr14:104030200-104031400	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:104030200-104031400	Enhancers	Brain Substantia Nigra	brain
6	chr14:104030200-104031400	Enhancers	Fetal Brain Male	brain
7	chr14:104030200-104031600	Enhancers	Pancreas	Pancrea
8	chr14:104030200-104031800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr14:104030200-104032800	Weak transcription	Gastric	stomach
10	chr14:104030200-104040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:104030200-104044800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:104030400-104031400	Enhancers	Brain Anterior Caudate	brain
13	chr14:104030400-104031400	Enhancers	Brain Hippocampus Middle	brain
14	chr14:104030400-104031400	Enhancers	Esophagus	oesophagus
15	chr14:104030400-104031600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:104030400-104031600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:104030400-104031600	Enhancers	Ovary	ovary
18	chr14:104030400-104032200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:104030400-104034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:104030400-104040600	Weak transcription	Lung	lung
21	chr14:104030600-104031400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:104030600-104032000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:104030600-104032800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:104030600-104035200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:104030600-104035200	Weak transcription	Placenta	Placenta
26	chr14:104030600-104035400	Weak transcription	Fetal Kidney	kidney
27	chr14:104030600-104037200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:104030600-104039200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:104030600-104039600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:104030600-104040600	Weak transcription	HSMMtube	muscle
31	chr14:104030600-104040800	Weak transcription	Right Ventricle	heart
32	chr14:104030600-104042400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:104030600-104042800	Weak transcription	Fetal Heart	heart
34	chr14:104030800-104031400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:104030800-104031400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:104030800-104031400	Enhancers	Adipose Nuclei	Adipose
37	chr14:104030800-104031400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr14:104030800-104031400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:104030800-104031600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:104030800-104031600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:104030800-104031600	Enhancers	Brain Germinal Matrix	brain
42	chr14:104030800-104031600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:104030800-104031600	Enhancers	Stomach Smooth Muscle	stomach
44	chr14:104030800-104031800	Enhancers	Liver	Liver
45	chr14:104030800-104032200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:104030800-104032400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:104030800-104032800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:104030800-104032800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:104030800-104032800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:104030800-104032800	Weak transcription	Brain Cingulate Gyrus	brain

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