Variant report

Variant	rs529270802
Chromosome Location	chr14:35019884-35019885
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:20)
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	POLR2A	chr14:35016922-35021427	IMR90	lung:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35019582..35021170-chr14:35048871..35051067,2	MCF-7	breast:
2	chr14:34940069..34942604-chr14:35019168..35021775,2	MCF-7	breast:
3	chr14:34963976..34965714-chr14:35019570..35022197,2	MCF-7	breast:
4	chr14:35018077..35020171-chr14:35160382..35163154,2	MCF-7	breast:
5	chr14:35005284..35011388-chr14:35017198..35025900,23	MCF-7	breast:
6	chr14:34929752..34932911-chr14:35018706..35021563,3	K562	blood:
7	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
8	chr14:34882267..34884337-chr14:35018117..35021042,2	K562	blood:
9	chr14:35002309..35005186-chr14:35018776..35021150,2	MCF-7	breast:
10	chr14:34801000..34803505-chr14:35018421..35020509,2	K562	blood:
11	chr14:35018167..35021076-chr14:35903929..35905498,2	MCF-7	breast:
12	chr14:35017271..35020208-chr14:35082278..35083991,2	MCF-7	breast:
13	chr14:35019137..35020709-chr14:35232783..35235542,2	MCF-7	breast:
14	chr14:34800052..34803596-chr14:35017115..35019908,4	MCF-7	breast:
15	chr14:35018094..35020789-chr14:36208643..36210468,2	MCF-7	breast:
16	chr14:34920582..34922864-chr14:35018787..35021782,2	K562	blood:
17	chr10:37086414..37088281-chr14:35019709..35021701,2	MCF-7	breast:
18	chr14:34930890..34932911-chr14:35017228..35020206,2	K562	blood:
19	chr14:34282029..34284795-chr14:35018887..35020691,2	MCF-7	breast:
20	chr14:35005592..35010362-chr14:35016916..35020262,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258612	TF binding region
ENSG00000165389	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000129521	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	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
3	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
4	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
5	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
6	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
7	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
8	esv2761826	chr14:35009633-35027508	Enhancers Weak transcription Active TSS Flanking 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	46 gene(s)	inside rSNPs	diseases
9	nsv517879	chr14:35019174-35021890	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	nsv520900	chr14:35019174-35021890	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
11	nsv517067	chr14:35019767-35021890	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35009000-35033000	Weak transcription	Gastric	stomach
2	chr14:35009600-35022200	Weak transcription	Fetal Intestine Large	intestine
3	chr14:35009600-35023800	Weak transcription	Right Atrium	heart
4	chr14:35017000-35020400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:35017000-35020400	Enhancers	Dnd41	blood
6	chr14:35017400-35023200	Weak transcription	Fetal Intestine Small	intestine
7	chr14:35017400-35023400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:35017400-35023400	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:35017400-35023400	Weak transcription	Pancreas	Pancrea
10	chr14:35017400-35023400	Weak transcription	A549	lung
11	chr14:35017400-35023400	Weak transcription	K562	blood
12	chr14:35017400-35023600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:35017400-35023800	Weak transcription	Primary B cells from cord blood	blood
14	chr14:35017400-35023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:35017400-35023800	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:35017400-35036000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr14:35017800-35023400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:35017800-35023400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:35017800-35023400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:35017800-35023800	Weak transcription	Thymus	Thymus
21	chr14:35018000-35023200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:35018000-35023200	Weak transcription	HepG2	liver
23	chr14:35018000-35023600	Weak transcription	Primary T cells from cord blood	blood
24	chr14:35018000-35023600	Weak transcription	Spleen	Spleen
25	chr14:35018000-35023800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:35018200-35023400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:35018200-35023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:35018400-35023200	Weak transcription	Hela-S3	cervix
29	chr14:35018400-35023400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:35018400-35023600	Weak transcription	HSMM	muscle
31	chr14:35018400-35023800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:35019000-35023400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:35019200-35020200	Weak transcription	Liver	Liver
34	chr14:35019200-35023200	Weak transcription	Fetal Thymus	thymus
35	chr14:35019200-35023600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:35019400-35023200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr14:35019600-35020000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:35019600-35020400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr14:35019800-35021800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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