Variant report

Variant	rs192234893
Chromosome Location	chr14:35449649-35449650
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:35449648-35453116	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr14:35449638-35453204	IMR90	lung:	n/a	n/a
3	POLR2A	chr14:35449467-35449739	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35449513..35454029-chr14:35868261..35874094,7	MCF-7	breast:
2	chr14:35023701..35025768-chr14:35449276..35451419,2	K562	blood:
3	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
4	chr14:35341948..35345853-chr14:35449382..35453241,7	K562	blood:
5	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAZ1A-1	chr14:35449441-35452103	NONHSAT036355

No data

Variant related genes	Relation type
SRP54	TF binding region
ENSG00000258738	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000206588	Chromatin interaction
ENSG00000198604	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS 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	54 gene(s)	inside rSNPs	diseases
5	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
15	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35411800-35450000	Weak transcription	Brain Angular Gyrus	brain
2	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:35420000-35450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:35420000-35450000	Weak transcription	Small Intestine	intestine
5	chr14:35420400-35450200	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
7	chr14:35422000-35450000	Weak transcription	Brain Substantia Nigra	brain
8	chr14:35423800-35450000	Weak transcription	Colonic Mucosa	Colon
9	chr14:35425800-35450000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:35425800-35450000	Weak transcription	Right Ventricle	heart
11	chr14:35425800-35450600	Weak transcription	Ovary	ovary
12	chr14:35426000-35449800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:35426000-35450000	Weak transcription	Lung	lung
14	chr14:35426000-35450200	Weak transcription	Aorta	Aorta
15	chr14:35426000-35450400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:35426000-35450800	Weak transcription	Gastric	stomach
17	chr14:35427200-35449800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:35427400-35450000	Weak transcription	Fetal Kidney	kidney
19	chr14:35427400-35450000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:35430000-35450200	Weak transcription	Stomach Mucosa	stomach
21	chr14:35435600-35449800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:35435800-35450000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:35436000-35449800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:35436400-35450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:35437600-35449800	Weak transcription	GM12878-XiMat	blood
26	chr14:35437600-35450000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr14:35437800-35449800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:35437800-35450000	Weak transcription	Adipose Nuclei	Adipose
29	chr14:35438000-35450000	Weak transcription	Spleen	Spleen
30	chr14:35438400-35449800	Weak transcription	Fetal Intestine Large	intestine
31	chr14:35438400-35450000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:35438600-35449800	Weak transcription	Fetal Lung	lung
33	chr14:35438600-35449800	Weak transcription	A549	lung
34	chr14:35438600-35450000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:35438600-35450000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr14:35438600-35450000	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:35438600-35450000	Weak transcription	Fetal Stomach	stomach
38	chr14:35438600-35450000	Weak transcription	Left Ventricle	heart
39	chr14:35438600-35450000	Weak transcription	Thymus	Thymus
40	chr14:35438800-35450000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:35438800-35450000	Weak transcription	Primary B cells from cord blood	blood
42	chr14:35441200-35450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:35441400-35450000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:35441400-35450000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:35441400-35450000	Weak transcription	HSMM	muscle
46	chr14:35441400-35450000	Weak transcription	HSMMtube	muscle
47	chr14:35441400-35450000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:35441600-35450000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:35441600-35450000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:35441600-35450000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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