Variant report

Variant	rs112671867
Chromosome Location	chr14:70233259-70233260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:70233212-70235962	HUVEC	blood vessel:	n/a	n/a
2	ZNF384	chr14:70233241-70234027	K562	blood:	n/a	n/a
3	POLR2A	chr14:70233138-70235911	U87	brain:	n/a	n/a
4	ELF1	chr14:70233175-70234820	HCT-116	colon:	n/a	chr14:70234514-70234526 chr14:70233800-70233809 chr14:70233799-70233810 chr14:70233799-70233810 chr14:70233748-70233761 chr14:70233797-70233810
5	RUNX3	chr14:70233127-70235085	GM12878	blood:	n/a	chr14:70234624-70234641 chr14:70234633-70234650
6	CHD2	chr14:70233198-70234847	GM12878	blood:	n/a	chr14:70234450-70234459
7	POLR2A	chr14:70233234-70234909	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr14:70233158-70234924	Hela-S3	cervix:	n/a	n/a
9	HEY1	chr14:70233126-70235396	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:70233224-70234993	K562	blood:	n/a	n/a
11	MAX	chr14:70233208-70234966	MCF-7	breast:	n/a	chr14:70234517-70234527
12	POLR2A	chr14:70233202-70235953	GM12878	blood:	n/a	n/a
13	IRF1	chr14:70233255-70234625	K562	blood:	n/a	n/a
14	POLR2A	chr14:70233192-70234785	GM18951	blood:	n/a	n/a
15	POLR2A	chr14:70233089-70236021	IMR90	lung:	n/a	n/a
16	GABPA	chr14:70233097-70234841	MCF-7	breast:	n/a	chr14:70234431-70234445 chr14:70234531-70234540 chr14:70234431-70234442
17	MAX	chr14:70233227-70234769	NB4	blood:	n/a	chr14:70234517-70234527
18	MYBL2	chr14:70233257-70234790	HepG2	liver:	n/a	n/a
19	TAF1	chr14:70233243-70234765	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:70233252-70235924	PBDE	blood:	n/a	n/a
21	POLR2A	chr14:70233152-70236900	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:70233258-70236927	Hela-S3	cervix:	n/a	n/a
23	REST	chr14:70233088-70235104	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr14:70233187-70234891	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr14:70233206-70234849	GM19099	blood:	n/a	n/a
26	MAZ	chr14:70233093-70235356	IMR90	lung:	n/a	chr14:70234517-70234527
27	POLR2A	chr14:70233140-70234854	SK-N-SH	brain:	n/a	n/a
28	RUNX3	chr14:70233094-70234953	GM12878	blood:	n/a	chr14:70234624-70234641 chr14:70234633-70234650
29	MYBL2	chr14:70233162-70234854	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:70233167-70236754	GM12891	blood:	n/a	n/a
31	CHD1	chr14:70233097-70242136	IMR90	lung:	n/a	chr14:70234450-70234459
32	POLR2A	chr14:70233212-70235824	MCF10A-Er-Src	breast:	n/a	n/a
33	MTA3	chr14:70233074-70234966	GM12878	blood:	n/a	n/a
34	ZMIZ1	chr14:70233218-70234882	K562	blood:	n/a	n/a
35	POLR2A	chr14:70233132-70235974	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr14:70233259-70234713	K562	blood:	n/a	chr14:70234517-70234527
37	PML	chr14:70233189-70234944	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:70232851-70235904	HepG2	liver:	n/a	n/a
39	MTA3	chr14:70233159-70234389	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:70233220-70235228	K562	blood:	n/a	n/a
41	POLR2A	chr14:70233250-70236806	HepG2	liver:	n/a	n/a
42	WRNIP1	chr14:70233183-70235865	GM12878	blood:	n/a	n/a
43	SIN3AK20	chr14:70233205-70235451	MCF-7	breast:	n/a	n/a
44	POLR2A	chr14:70233132-70235911	U87	brain:	n/a	n/a
45	POLR2A	chr14:70233244-70235897	K562	blood:	n/a	n/a
46	POLR2A	chr14:70233208-70233259	MCF-7	breast:	n/a	n/a
47	HCFC1	chr14:70233147-70235342	Hela-S3	cervix:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70232881..70235770-chr14:70270700..70273092,2	MCF-7	breast:
2	chr14:70233225..70234196-chr7:91569475..91570354,2	NB4	blood:
3	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:
4	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
5	chr14:69864846..69866528-chr14:70232343..70235201,2	K562	blood:
6	chr1:207494727..207495520-chr14:70232723..70233666,2	Hela-S3	cervix:
7	chr14:70077771..70080127-chr14:70232780..70235719,3	MCF-7	breast:
8	chr14:70232370..70233879-chr8:96280749..96282540,2	MCF-7	breast:
9	chr14:70078185..70080215-chr14:70232416..70234645,2	K562	blood:
10	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
11	chr14:70233111..70234704-chr14:71276587..71278198,2	MCF-7	breast:
12	chr14:70232529..70235203-chr3:112855285..112858190,2	MCF-7	breast:
13	chr14:70077094..70079754-chr14:70233044..70235632,2	K562	blood:
14	chr14:70233253..70234211-chr3:132440841..132441369,2	Hela-S3	cervix:
15	chr14:70233166..70234462-chr9:140134817..140136094,3	Hela-S3	cervix:
16	chr14:70232810..70235786-chr14:71065753..71068797,4	MCF-7	breast:
17	chr14:70233095..70235215-chr14:71274129..71276265,2	MCF-7	breast:
18	chr14:70232711..70233593-chr17:8058943..8059803,2	Hela-S3	cervix:
19	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
ENSG00000175985	Chromatin interaction
ENSG00000253076	Chromatin interaction
ENSG00000100647	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000248724	Chromatin interaction
ENSG00000221060	Chromatin interaction
ENSG00000255994	Chromatin interaction
ENSG00000267909	Chromatin interaction
ENSG00000133997	Chromatin interaction
ENSG00000006432	Chromatin interaction
ENSG00000179094	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000100652	Chromatin interaction
ENSG00000259153	Chromatin interaction
ENSG00000113971	Chromatin interaction
ENSG00000196352	Chromatin interaction
ENSG00000029364	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000100632	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000127914	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70232600-70233800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr14:70232600-70234600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70232600-70234800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr14:70232800-70233600	Flanking Active TSS	Dnd41	blood
5	chr14:70232800-70233800	Weak transcription	Spleen	Spleen
6	chr14:70233000-70233400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:70233000-70233400	Enhancers	Lung	lung
8	chr14:70233000-70233400	Enhancers	Pancreas	Pancrea
9	chr14:70233000-70233400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:70233000-70233400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr14:70233000-70233400	Active TSS	HepG2	liver
12	chr14:70233000-70233600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:70233000-70233600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr14:70233000-70233600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:70233000-70233600	Flanking Active TSS	Liver	Liver
16	chr14:70233000-70233600	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr14:70233000-70233600	Flanking Active TSS	Hela-S3	cervix
18	chr14:70233000-70233800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr14:70233000-70233800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr14:70233000-70233800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:70233000-70233800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:70233000-70234600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:70233000-70234600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:70233000-70234600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:70233000-70234800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:70233000-70234800	Active TSS	Brain Anterior Caudate	brain
27	chr14:70233000-70234800	Active TSS	Brain Hippocampus Middle	brain
28	chr14:70233000-70234800	Active TSS	GM12878-XiMat	blood
29	chr14:70233000-70234800	Active TSS	HSMM	muscle
30	chr14:70233000-70235000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:70233000-70235000	Active TSS	Colonic Mucosa	Colon
32	chr14:70233000-70235000	Active TSS	HSMMtube	muscle
33	chr14:70233200-70233400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr14:70233200-70233400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr14:70233200-70233400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr14:70233200-70233400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr14:70233200-70233400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:70233200-70233400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:70233200-70233400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr14:70233200-70233400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr14:70233200-70233400	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr14:70233200-70233400	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr14:70233200-70233400	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr14:70233200-70233400	Flanking Active TSS	Fetal Stomach	stomach
45	chr14:70233200-70233400	Flanking Active TSS	Fetal Thymus	thymus
46	chr14:70233200-70233400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr14:70233200-70233400	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr14:70233200-70233400	Flanking Active TSS	Stomach Mucosa	stomach
49	chr14:70233200-70233400	Flanking Active TSS	Thymus	Thymus
50	chr14:70233200-70233400	Flanking Active TSS	K562	blood

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