Variant report

Variant	rs548002573
Chromosome Location	chr14:34931254-34931255
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:34931214..34931822-chr17:28443513..28444222,2	Hela-S3	cervix:
2	chr14:34930470..34932730-chr14:35007965..35010227,2	K562	blood:
3	chr14:34929915..34933661-chr14:35006959..35010400,6	MCF-7	breast:
4	chr14:34930899..34931823-chr2:97425912..97426737,2	Hela-S3	cervix:
5	chr1:149899645..149900310-chr14:34931155..34932030,2	HCT-116	colon:
6	chr14:34930543..34933153-chr14:35015586..35017251,2	MCF-7	breast:
7	chr14:34929666..34933656-chr14:35005721..35010391,9	K562	blood:
8	chr14:34930950..34931488-chr7:112090140..112090987,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000206596	Chromatin interaction
ENSG00000126653	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000199071	Chromatin interaction
ENSG00000143368	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	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
12	esv3401129	chr14:34930451-34932699	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr14:34929000-34932000	Active TSS	NHLF	lung
2	chr14:34929000-34932400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:34929000-34932600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:34929200-34932000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:34929200-34932400	Active TSS	HMEC	breast
6	chr14:34929400-34931800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:34929400-34932000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:34929400-34932000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:34929400-34932000	Active TSS	K562	blood
10	chr14:34929400-34932400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr14:34929600-34932000	Active TSS	NHEK	skin
12	chr14:34929800-34931800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:34929800-34931800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:34929800-34931800	Active TSS	Stomach Smooth Muscle	stomach
15	chr14:34929800-34932000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr14:34929800-34932000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:34929800-34932000	Active TSS	Hela-S3	cervix
18	chr14:34929800-34932000	Active TSS	NHDF-Ad	bronchial
19	chr14:34929800-34932200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:34929800-34932200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:34929800-34932200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:34929800-34932200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:34929800-34932200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:34929800-34932200	Active TSS	Psoas Muscle	Psoas
25	chr14:34929800-34932200	Active TSS	A549	lung
26	chr14:34929800-34932200	Active TSS	HSMMtube	muscle
27	chr14:34930000-34931800	Active TSS	NH-A	brain
28	chr14:34930000-34932000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr14:34930000-34932000	Active TSS	Right Ventricle	heart
30	chr14:34930000-34932000	Active TSS	Small Intestine	intestine
31	chr14:34930000-34932200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:34930000-34932200	Active TSS	Aorta	Aorta
33	chr14:34930200-34931800	Active TSS	Colonic Mucosa	Colon
34	chr14:34930200-34931800	Active TSS	Thymus	Thymus
35	chr14:34930200-34931800	Active TSS	HSMM	muscle
36	chr14:34930200-34932000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:34930200-34932200	Active TSS	H9 Cell Line	embryonic stem cell
38	chr14:34930400-34931800	Active TSS	Duodenum Mucosa	Duodenum
39	chr14:34930400-34931800	Active TSS	Fetal Muscle Trunk	muscle
40	chr14:34930400-34931800	Active TSS	Fetal Muscle Leg	muscle
41	chr14:34930400-34931800	Active TSS	Fetal Stomach	stomach
42	chr14:34930400-34932000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:34930400-34932000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr14:34930400-34932000	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr14:34930400-34932000	Active TSS	Brain Angular Gyrus	brain
46	chr14:34930400-34932000	Active TSS	Fetal Intestine Large	intestine
47	chr14:34930400-34932000	Active TSS	Ovary	ovary
48	chr14:34930400-34932000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr14:34930400-34932000	Active TSS	Rectal Smooth Muscle	rectum
50	chr14:34930400-34932000	Active TSS	Sigmoid Colon	Sigmoid Colon

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