Variant report

Variant	rs35026580
Chromosome Location	chr14:104042753-104042754
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	MXI1	chr14:104042598-104043761	SK-N-SH	brain:	n/a	chr14:104043161-104043176 chr14:104043163-104043178
2	MXI1	chr14:104042658-104043611	IMR90	lung:	n/a	chr14:104043161-104043176 chr14:104043163-104043178
3	MAX	chr14:104042666-104043409	MCF-7	breast:	n/a	chr14:104043167-104043176

No.	Distal block	Cell Line	Cell type
1	chr14:104041686..104043477-chr14:104144535..104146675,2	MCF-7	breast:
2	chr14:104040497..104046116-chr14:104179984..104183762,7	MCF-7	breast:
3	chr14:104037950..104041311-chr14:104041482..104045327,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264904	TF binding region
ENSG00000256053	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000100711	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10431750	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844466	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11851000	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11851616	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12887734	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12889403	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889721	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12889731	0.82[AMR][1000 genomes]
rs12890820	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892038	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12894729	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274267	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296482	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403196	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2403197	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2896487	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34026011	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34186780	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34843146	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34896432	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35229468	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35496194	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35498576	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4525427	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4906335	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906336	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906337	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4906338	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4906347	0.80[AMR][1000 genomes]
rs55751606	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57072546	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58033365	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60249782	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67899457	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7140568	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71417868	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148456	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017628	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8017993	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[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	chr14:104030200-104044800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:104030600-104042800	Weak transcription	Fetal Heart	heart
4	chr14:104030800-104044000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:104030800-104073200	Weak transcription	Small Intestine	intestine
6	chr14:104035400-104060400	Weak transcription	Fetal Brain Male	brain
7	chr14:104037400-104048400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr14:104037800-104042800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr14:104037800-104045400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:104038000-104045600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr14:104038000-104045600	Strong transcription	Dnd41	blood
12	chr14:104038200-104042800	Strong transcription	Fetal Intestine Small	intestine
13	chr14:104038400-104048800	Strong transcription	Fetal Brain Female	brain
14	chr14:104038400-104049400	Strong transcription	Primary T cells from cord blood	blood
15	chr14:104038800-104042800	Strong transcription	Fetal Intestine Large	intestine
16	chr14:104038800-104045600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:104038800-104045600	Strong transcription	HepG2	liver
18	chr14:104038800-104045600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:104038800-104046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:104038800-104051000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:104039000-104045800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:104039000-104046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:104039200-104045600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:104039400-104045600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:104039400-104045800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:104039600-104045400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr14:104039800-104045600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:104040000-104045600	Strong transcription	Thymus	Thymus
29	chr14:104040200-104045600	Strong transcription	Primary B cells from cord blood	blood
30	chr14:104041000-104059600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:104041000-104063200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:104041200-104044600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:104041400-104042800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:104041600-104042800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:104041600-104042800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:104041600-104042800	Weak transcription	Ovary	ovary
37	chr14:104041600-104042800	Weak transcription	HSMMtube	muscle
38	chr14:104041600-104043000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:104041600-104043200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:104041600-104043600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:104041600-104043600	Weak transcription	Gastric	stomach
42	chr14:104041600-104044600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:104041600-104056200	Weak transcription	K562	blood
44	chr14:104041600-104056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:104041800-104042800	Weak transcription	Brain Angular Gyrus	brain
46	chr14:104041800-104042800	Weak transcription	Left Ventricle	heart
47	chr14:104041800-104042800	Weak transcription	Lung	lung
48	chr14:104041800-104042800	Enhancers	Rectal Smooth Muscle	rectum
49	chr14:104041800-104042800	Enhancers	NHLF	lung
50	chr14:104041800-104043200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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