Variant report

Variant	rs35091031
Chromosome Location	chr14:35007358-35007359
allele	C/T
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:10)
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	TBP	chr14:35007111-35007458	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
2	chr14:35005506..35011243-chr14:35020994..35025666,12	MCF-7	breast:
3	chr14:35005284..35011388-chr14:35017198..35025900,23	MCF-7	breast:
4	chr14:35005764..35008884-chr14:35021719..35025749,6	K562	blood:
5	chr14:34992410..34994552-chr14:35006648..35008744,2	MCF-7	breast:
6	chr14:34792427..34794155-chr14:35007082..35008607,2	MCF-7	breast:
7	chr14:35003178..35006952-chr14:35007318..35009026,4	MCF-7	breast:
8	chr14:34929666..34933656-chr14:35005721..35010391,9	K562	blood:
9	chr14:34929915..34933661-chr14:35006959..35010400,6	MCF-7	breast:
10	chr14:34990714..34993643-chr14:35006292..35008810,2	K562	blood:

No data

Variant related genes	Relation type
EAPP	TF binding region
ENSG00000206588	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000206596	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12050290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434523	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588228	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588878	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12589576	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590563	0.80[AFR][1000 genomes]
rs12878227	0.82[EUR][1000 genomes]
rs12878854	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12882703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12884997	0.81[EUR][1000 genomes]
rs12885352	0.81[EUR][1000 genomes]
rs12894795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12895007	0.80[AFR][1000 genomes]
rs13826	0.83[EUR][1000 genomes]
rs28515732	0.82[EUR][1000 genomes]
rs34068551	0.81[EUR][1000 genomes]
rs34356189	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34437689	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34479175	0.81[EUR][1000 genomes]
rs35194168	0.82[EUR][1000 genomes]
rs35415402	0.80[EUR][1000 genomes]
rs35804665	0.83[AFR][1000 genomes]
rs4368076	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4592561	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4628872	0.81[EUR][1000 genomes]
rs55858014	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56801633	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61316540	0.81[EUR][1000 genomes]
rs61979674	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61979715	0.81[EUR][1000 genomes]
rs61981527	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61981529	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7158829	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[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	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers 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	17 gene(s)	inside rSNPs	diseases
8	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
10	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34986600-35008400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:34988000-35008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:34989200-35008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:34992200-35008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:34998000-35007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:34998000-35007800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:35000400-35007800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:35002200-35007800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:35002200-35008400	Weak transcription	Lung	lung
10	chr14:35002800-35007800	Weak transcription	Spleen	Spleen
11	chr14:35003000-35007800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:35003200-35007800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:35003600-35008000	Weak transcription	Esophagus	oesophagus
14	chr14:35003800-35007800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:35004000-35007800	Weak transcription	Brain Anterior Caudate	brain
16	chr14:35005400-35007800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:35005400-35007800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:35005400-35008000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:35005600-35007600	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr14:35005800-35007400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr14:35005800-35007600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr14:35005800-35007800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:35006200-35007400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:35006200-35007800	Enhancers	Pancreas	Pancrea
25	chr14:35006400-35007400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:35006400-35007400	Genic enhancers	HSMM	muscle
27	chr14:35006400-35007600	Enhancers	HSMMtube	muscle
28	chr14:35006400-35007800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:35006400-35008000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr14:35006400-35008400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:35006600-35007400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:35006600-35007400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:35006600-35007400	Genic enhancers	Dnd41	blood
34	chr14:35006600-35007600	Enhancers	Psoas Muscle	Psoas
35	chr14:35006600-35007600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:35006600-35007800	Enhancers	Colon Smooth Muscle	Colon
37	chr14:35006600-35008000	Enhancers	Fetal Heart	heart
38	chr14:35006600-35008000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr14:35006800-35007400	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:35006800-35007400	Genic enhancers	HMEC	breast
41	chr14:35006800-35007600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:35006800-35007600	Genic enhancers	Fetal Stomach	stomach
43	chr14:35006800-35007600	Genic enhancers	Fetal Thymus	thymus
44	chr14:35006800-35007600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
45	chr14:35006800-35007600	Enhancers	Stomach Mucosa	stomach
46	chr14:35006800-35007600	Enhancers	Osteobl	bone
47	chr14:35006800-35007800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:35006800-35007800	Enhancers	Primary B cells from cord blood	blood
49	chr14:35006800-35007800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:35006800-35007800	Enhancers	Brain Angular Gyrus	brain

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