Variant report

Variant	rs571735080
Chromosome Location	chr14:70233127-70233128
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr14:70233127-70235085	GM12878	blood:	n/a	chr14:70234624-70234641 chr14:70234633-70234650
2	HEY1	chr14:70233126-70235396	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:70233089-70236021	IMR90	lung:	n/a	n/a
4	GABPA	chr14:70233097-70234841	MCF-7	breast:	n/a	chr14:70234431-70234445 chr14:70234531-70234540 chr14:70234431-70234442
5	REST	chr14:70233088-70235104	H1-neurons	neurons:	n/a	n/a
6	MAZ	chr14:70233093-70235356	IMR90	lung:	n/a	chr14:70234517-70234527
7	RUNX3	chr14:70233094-70234953	GM12878	blood:	n/a	chr14:70234624-70234641 chr14:70234633-70234650
8	CHD1	chr14:70233097-70242136	IMR90	lung:	n/a	chr14:70234450-70234459
9	MTA3	chr14:70233074-70234966	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:70232851-70235904	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70232881..70235770-chr14:70270700..70273092,2	MCF-7	breast:
2	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:
3	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
4	chr14:69864846..69866528-chr14:70232343..70235201,2	K562	blood:
5	chr1:207494727..207495520-chr14:70232723..70233666,2	Hela-S3	cervix:
6	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
7	chr14:70232370..70233879-chr8:96280749..96282540,2	MCF-7	breast:
8	chr14:70078185..70080215-chr14:70232416..70234645,2	K562	blood:
9	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
10	chr14:70233111..70234704-chr14:71276587..71278198,2	MCF-7	breast:
11	chr14:70232529..70235203-chr3:112855285..112858190,2	MCF-7	breast:
12	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
13	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:
14	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:
15	chr14:70232711..70233593-chr17:8058943..8059803,2	Hela-S3	cervix:
16	chr14:70193435..70195061-chr14:70232589..70234499,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC10A1-1	chr14:70233000-70234430	NONHSAT037537

No data

Variant related genes	Relation type
SRSF5	TF binding region
ENSG00000196352	Chromatin interaction
ENSG00000133997	Chromatin interaction
ENSG00000179094	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000100652	Chromatin interaction
ENSG00000255994	Chromatin interaction
ENSG00000100647	Chromatin interaction
ENSG00000175985	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000221060	Chromatin interaction
ENSG00000253076	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000267909	Chromatin interaction
ENSG00000006432	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000259153	Chromatin interaction
ENSG00000029364	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	esv3425903	chr14:70232649-70235147	Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70230400-70233200	Weak transcription	Stomach Mucosa	stomach
2	chr14:70232200-70233200	Enhancers	Primary T cells from cord blood	blood
3	chr14:70232200-70233200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:70232400-70233200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr14:70232400-70233200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:70232400-70233200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:70232400-70233200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr14:70232400-70233200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr14:70232400-70233200	Enhancers	Brain Substantia Nigra	brain
10	chr14:70232400-70233200	Enhancers	Fetal Thymus	thymus
11	chr14:70232600-70233200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:70232600-70233200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:70232600-70233200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr14:70232600-70233200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:70232600-70233200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:70232600-70233200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:70232600-70233200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:70232600-70233200	Active TSS	Fetal Heart	heart
19	chr14:70232600-70233200	Enhancers	Fetal Lung	lung
20	chr14:70232600-70233200	Enhancers	Thymus	Thymus
21	chr14:70232600-70233800	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr14:70232600-70234600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:70232600-70234800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr14:70232800-70233200	Enhancers	Fetal Muscle Trunk	muscle
25	chr14:70232800-70233200	Enhancers	Placenta	Placenta
26	chr14:70232800-70233200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr14:70232800-70233600	Flanking Active TSS	Dnd41	blood
28	chr14:70232800-70233800	Weak transcription	Spleen	Spleen
29	chr14:70233000-70233200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr14:70233000-70233200	Enhancers	Primary B cells from peripheral blood	blood
31	chr14:70233000-70233200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:70233000-70233200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:70233000-70233200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:70233000-70233200	Enhancers	Adipose Nuclei	Adipose
35	chr14:70233000-70233200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:70233000-70233200	Enhancers	Colon Smooth Muscle	Colon
37	chr14:70233000-70233200	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:70233000-70233200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr14:70233000-70233200	Enhancers	Fetal Intestine Large	intestine
40	chr14:70233000-70233200	Enhancers	Fetal Intestine Small	intestine
41	chr14:70233000-70233200	Enhancers	Fetal Kidney	kidney
42	chr14:70233000-70233200	Enhancers	Fetal Muscle Leg	muscle
43	chr14:70233000-70233200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr14:70233000-70233200	Enhancers	Rectal Smooth Muscle	rectum
45	chr14:70233000-70233200	Active TSS	Stomach Smooth Muscle	stomach
46	chr14:70233000-70233200	Active TSS	HMEC	breast
47	chr14:70233000-70233200	Enhancers	HUVEC	blood vessel
48	chr14:70233000-70233200	Enhancers	K562	blood
49	chr14:70233000-70233200	Enhancers	NH-A	brain
50	chr14:70233000-70233200	Active TSS	NHEK	skin

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