Variant report

Variant	rs146908013
Chromosome Location	chr14:105714379-105714380
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr14:105714255-105714973	GM12878	blood:	n/a	n/a
2	RCOR1	chr14:105714358-105714547	K562	blood:	n/a	n/a
3	RFX5	chr14:105714322-105715203	Hela-S3	cervix:	n/a	chr14:105714779-105714788
4	RFX5	chr14:105714257-105714958	H1-hESC	embryonic stem cell:	n/a	chr14:105714779-105714788
5	MAX	chr14:105714252-105715070	A549	lung:	n/a	n/a
6	POLR2A	chr14:105714378-105715641	HUVEC	blood vessel:	n/a	n/a
7	MXI1	chr14:105713878-105716413	IMR90	lung:	n/a	n/a
8	POLR2A	chr14:105714363-105715759	GM12878	blood:	n/a	n/a
9	MAX	chr14:105714246-105715060	ECC-1	luminal epithelium:	n/a	n/a
10	ZNF143	chr14:105714295-105715093	GM12878	blood:	n/a	chr14:105714723-105714733
11	POLR2A	chr14:105713980-105715268	HL-60	blood:	n/a	n/a
12	MAX	chr14:105714143-105715844	A549	lung:	n/a	n/a
13	ELF1	chr14:105713996-105715030	GM12878	blood:	n/a	n/a
14	NRF1	chr14:105714358-105715111	SK-N-SH	brain:	n/a	chr14:105714822-105714831
15	E2F6	chr14:105714210-105714946	A549	lung:	n/a	chr14:105714822-105714831 chr14:105714311-105714325
16	POLR2A	chr14:105714281-105715125	PFSK-1	brain:	n/a	n/a
17	RFX5	chr14:105713778-105715337	IMR90	lung:	n/a	chr14:105714779-105714788
18	TCF12	chr14:105714131-105714626	A549	lung:	n/a	n/a
19	POLR2A	chr14:105714376-105714850	U87	brain:	n/a	n/a
20	MAX	chr14:105714208-105715521	ECC-1	luminal epithelium:	n/a	n/a
21	BRCA1	chr14:105714311-105714507	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF143	chr14:105714239-105714750	H1-hESC	embryonic stem cell:	n/a	chr14:105714723-105714733
23	MTA3	chr14:105714287-105714749	GM12878	blood:	n/a	n/a
24	RFX5	chr14:105713745-105715212	SK-N-SH	brain:	n/a	chr14:105714779-105714788
25	ZEB1	chr14:105714374-105714811	GM12878	blood:	n/a	n/a
26	JUN	chr14:105714250-105714557	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr14:105714368-105715046	ECC-1	luminal epithelium:	n/a	n/a
28	GABPA	chr14:105714373-105714882	H1-hESC	embryonic stem cell:	n/a	chr14:105714822-105714831
29	RUNX3	chr14:105714331-105714781	GM12878	blood:	n/a	n/a
30	REST	chr14:105714272-105715158	H1-neurons	neurons:	n/a	chr14:105715040-105715058 chr14:105715042-105715055
31	SP1	chr14:105714368-105714941	A549	lung:	n/a	chr14:105714818-105714832 chr14:105714822-105714832 chr14:105714821-105714833 chr14:105714823-105714832 chr14:105714822-105714832 chr14:105714821-105714833 chr14:105714822-105714831 chr14:105714823-105714832
32	POLR2A	chr14:105714370-105714856	U87	brain:	n/a	n/a
33	POLR2A	chr14:105714367-105715749	GM12892	blood:	n/a	n/a
34	RUNX3	chr14:105714299-105714980	GM12878	blood:	n/a	n/a
35	STAT5A	chr14:105714221-105714669	GM12878	blood:	n/a	n/a
36	MXI1	chr14:105713807-105715838	SK-N-SH	brain:	n/a	n/a
37	MAX	chr14:105713947-105715780	MCF-7	breast:	n/a	n/a
38	RCOR1	chr14:105714231-105714788	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105714379-105714429	PrEC	prostate:	n/a
2	chr14:105714379-105714429	ProgFib	skin:	n/a
3	chr14:105714379-105714429	NHBE	bronchial:	n/a
4	chr14:105714379-105714429	SK-N-SH	brain:	n/a
5	chr14:105714379-105714429	IMR90	lung:	fetal
6	chr14:105714379-105714429	LNCaP	prostate:	n/a
7	chr14:105714379-105714429	HCF	heart:	n/a
8	chr14:105714379-105714429	T-47D	breast:	n/a
9	chr14:105714379-105714429	MCF10A-Er-Src	breast:	n/a
10	chr14:105714379-105714429	HUVEC	blood vessel:	n/a
11	chr14:105714379-105714429	HIPEpiC	eye:	n/a
12	chr14:105714379-105714429	GM12892	blood:	n/a
13	chr14:105714379-105714429	PFSK-1	brain:	n/a
14	chr14:105714379-105714429	SK-N-SH_RA	brain:	n/a
15	chr14:105714379-105714429	AoSMC	blood vessel:	n/a
16	chr14:105714379-105714429	AG09309	skin:	n/a
17	chr14:105714379-105714429	GM12878	blood:	n/a
18	chr14:105714379-105714429	SAEC	small airway:	n/a
19	chr14:105714379-105714429	AG04449	skin:	fetal
20	chr14:105714379-105714429	AG04450	lung:	fetal
21	chr14:105714379-105714429	RPTEC	kidney:	n/a
22	chr14:105714379-105714429	A549	lung:	n/a
23	chr14:105714379-105714429	HepG2	liver:	n/a
24	chr14:105714379-105714429	HCM	heart:	n/a
25	chr14:105714379-105714429	GM12891	blood:	n/a
26	chr14:105714379-105714429	NB4	blood:	n/a
27	chr14:105714379-105714429	GM19239	blood:	n/a
28	chr14:105714379-105714429	HRE	kidney:	n/a
29	chr14:105714379-105714429	ECC-1	luminal epithelium:	n/a
30	chr14:105714379-105714429	ovcar-3	ovarian:	n/a
31	chr14:105714379-105714429	NH-A	brain:	n/a
32	chr14:105714379-105714429	BE2_C	brain:	n/a
33	chr14:105714379-105714429	MCF-7	breast:	n/a
34	chr14:105714379-105714429	AG10803	skin:	n/a
35	chr14:105714379-105714429	HEK293	kidney:	embryo
36	chr14:105714379-105714429	CMK	blood:	n/a
37	chr14:105714379-105714429	Hela-S3	cervix:	n/a
38	chr14:105714379-105714429	HMEC	breast:	n/a
39	chr14:105714379-105714429	SKMC	muscle:	n/a
40	chr14:105714379-105714429	HAEpiC	amniotic membrane:	n/a
41	chr14:105714379-105714429	HCT-116	colon:	n/a
42	chr14:105714379-105714429	HCPEpiC	choroid plexus:	n/a
43	chr14:105714379-105714429	Jurkat	blood:	n/a
44	chr14:105714379-105714429	HEEpiC	esophagus:	n/a
45	chr14:105714379-105714429	HRPEpiC	eye:	n/a
46	chr14:105714379-105714429	HL-60	blood:	n/a
47	chr14:105714379-105714429	U87	brain:	n/a
48	chr14:105714379-105714429	NT2-D1	testis:	n/a
49	chr14:105714379-105714429	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:105714379-105714429	SK-N-MC	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105713379..105716522-chr14:105764463..105769159,4	MCF-7	breast:
2	chr14:105687326..105689962-chr14:105713390..105716265,3	MCF-7	breast:

No data

Variant related genes	Relation type
BTBD6	TF binding region
BRF1	TF binding region
BRF1	CpG island
BTBD6	CpG island
ENSG00000185024	Chromatin interaction
ENSG00000179364	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
8	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
9	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv902433	chr14:105596054-105719306	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
16	nsv902460	chr14:105646179-105731255	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv902464	chr14:105654606-105717265	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv510651	chr14:105656882-105725155	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv566186	chr14:105675701-105779305	Weak transcription Strong transcription Flanking Active TSS Enhancers 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	18 gene(s)	inside rSNPs	diseases
20	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv902467	chr14:105709106-105719306	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv902468	chr14:105712091-105721808	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	esv3357131	chr14:105713857-105716805	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105690400-105721400	Weak transcription	K562	blood
2	chr14:105708600-105714400	Weak transcription	Aorta	Aorta
3	chr14:105711800-105717000	Enhancers	Fetal Brain Male	brain
4	chr14:105713200-105714400	Genic enhancers	Fetal Lung	lung
5	chr14:105713400-105714400	Enhancers	Fetal Heart	heart
6	chr14:105713600-105714400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:105713600-105714600	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr14:105713800-105714400	Enhancers	Left Ventricle	heart
9	chr14:105713800-105714400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr14:105713800-105714400	Enhancers	Spleen	Spleen
11	chr14:105713800-105714800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr14:105713800-105714800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr14:105713800-105714800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr14:105713800-105716000	Weak transcription	HepG2	liver
15	chr14:105714000-105714400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:105714000-105714400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:105714000-105714400	Enhancers	Ovary	ovary
18	chr14:105714000-105714400	Enhancers	Pancreas	Pancrea
19	chr14:105714000-105714400	Enhancers	Right Atrium	heart
20	chr14:105714000-105714400	Enhancers	Small Intestine	intestine
21	chr14:105714000-105714400	Enhancers	Stomach Mucosa	stomach
22	chr14:105714000-105714400	Transcr. at gene 5' and 3'	A549	lung
23	chr14:105714000-105714600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:105714000-105714600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:105714000-105714600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:105714000-105714600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr14:105714000-105714600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr14:105714000-105714600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:105714000-105714600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:105714000-105714600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:105714000-105714600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:105714000-105714600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:105714000-105714600	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr14:105714000-105714600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr14:105714000-105714600	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr14:105714000-105714600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:105714000-105714600	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr14:105714000-105714600	Flanking Active TSS	Fetal Brain Female	brain
39	chr14:105714000-105714600	Flanking Active TSS	Lung	lung
40	chr14:105714000-105714600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr14:105714000-105714600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr14:105714000-105714600	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr14:105714000-105714600	Flanking Active TSS	Thymus	Thymus
44	chr14:105714000-105714600	Flanking Active TSS	GM12878-XiMat	blood
45	chr14:105714000-105714600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr14:105714000-105714600	Flanking Active TSS	NHEK	skin
47	chr14:105714000-105714600	Transcr. at gene 5' and 3'	NHLF	lung
48	chr14:105714000-105714800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr14:105714000-105714800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:105714000-105714800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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