Variant report

Variant	rs10431750
Chromosome Location	chr14:104040065-104040066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104038958..104041792-chr14:104093403..104095893,2	MCF-7	breast:
2	chr14:104038550..104040272-chr14:104093339..104095462,2	MCF-7	breast:
3	chr14:104037950..104041311-chr14:104041482..104045327,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264904	Chromatin interaction
ENSG00000126214	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
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];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12889403	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889721	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12890820	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892038	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12894729	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274267	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296482	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403196	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403197	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2896487	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34026011	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34186780	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34843146	0.80[ASN][1000 genomes]
rs34896432	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35026580	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35229468	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35496194	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35498576	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4525427	0.82[ASN][1000 genomes]
rs4906335	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906336	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906337	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906338	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55751606	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57072546	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58033365	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60249782	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67899457	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7140568	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417868	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148456	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017628	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017993	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
8	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
9	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	chr14:104030000-104045000	Weak transcription	Aorta	Aorta
2	chr14:104030200-104040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104030200-104044800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:104030400-104040600	Weak transcription	Lung	lung
5	chr14:104030600-104040600	Weak transcription	HSMMtube	muscle
6	chr14:104030600-104040800	Weak transcription	Right Ventricle	heart
7	chr14:104030600-104042400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:104030600-104042800	Weak transcription	Fetal Heart	heart
9	chr14:104030800-104040200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:104030800-104040200	Weak transcription	HSMM	muscle
11	chr14:104030800-104040400	Weak transcription	Colonic Mucosa	Colon
12	chr14:104030800-104040400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:104030800-104040600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:104030800-104040600	Weak transcription	Brain Angular Gyrus	brain
15	chr14:104030800-104040600	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:104030800-104040600	Weak transcription	Fetal Thymus	thymus
17	chr14:104030800-104040600	Weak transcription	Psoas Muscle	Psoas
18	chr14:104030800-104040600	Weak transcription	Spleen	Spleen
19	chr14:104030800-104040600	Weak transcription	K562	blood
20	chr14:104030800-104040600	Weak transcription	NHLF	lung
21	chr14:104030800-104042600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:104030800-104044000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:104030800-104073200	Weak transcription	Small Intestine	intestine
24	chr14:104031000-104040200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:104031000-104040200	Weak transcription	NHEK	skin
26	chr14:104031000-104040600	Weak transcription	HMEC	breast
27	chr14:104031400-104040600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr14:104031400-104040600	Weak transcription	Esophagus	oesophagus
29	chr14:104031400-104041200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:104031600-104041000	Weak transcription	Left Ventricle	heart
31	chr14:104032400-104040400	Weak transcription	Liver	Liver
32	chr14:104033000-104040400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:104033200-104040600	Weak transcription	Pancreas	Pancrea
34	chr14:104033400-104040200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:104034600-104040200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:104034600-104040600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:104035400-104060400	Weak transcription	Fetal Brain Male	brain
38	chr14:104035600-104040400	Weak transcription	GM12878-XiMat	blood
39	chr14:104035600-104040600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:104035800-104040600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:104035800-104040600	Weak transcription	Brain Anterior Caudate	brain
42	chr14:104035800-104040600	Weak transcription	Fetal Kidney	kidney
43	chr14:104035800-104040800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:104035800-104040800	Weak transcription	Brain Substantia Nigra	brain
45	chr14:104036000-104040200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:104036000-104040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:104036000-104040400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:104036000-104040600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:104036000-104040600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:104036000-104040600	Weak transcription	Placenta	Placenta

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