Variant report

Variant	rs191461980
Chromosome Location	chr14:71786602-71786603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:71786480-71786630	HCM	heart:	n/a	n/a
2	CTCF	chr14:71786458-71786615	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:71786460-71786610	MCF-7	breast:	n/a	n/a
4	RAD21	chr14:71786396-71787375	H1-hESC	embryonic stem cell:	n/a	chr14:71787005-71787018 chr14:71787277-71787290
5	RCOR1	chr14:71786509-71787418	GM12878	blood:	n/a	n/a
6	MXI1	chr14:71786388-71787382	GM12878	blood:	n/a	chr14:71786940-71786955 chr14:71786938-71786953
7	CTCF	chr14:71786453-71786605	MCF-7	breast:	n/a	n/a
8	GATA3	chr14:71786599-71787615	A549	lung:	n/a	chr14:71787333-71787343
9	CTCF	chr14:71786580-71786730	GM12864	blood:	n/a	n/a
10	PML	chr14:71786510-71789130	GM12878	blood:	n/a	chr14:71787820-71787828 chr14:71786649-71786657
11	CTCF	chr14:71786520-71786670	GM12865	blood:	n/a	n/a
12	POLR2A	chr14:71786553-71788996	HepG2	liver:	n/a	n/a
13	CTCF	chr14:71786460-71786610	GM12865	blood:	n/a	n/a
14	CTCF	chr14:71786480-71786630	WERI-Rb-1	eye:	n/a	n/a
15	POLR2A	chr14:71786467-71789037	GM12891	blood:	n/a	n/a
16	MXI1	chr14:71786032-71789994	SK-N-SH	brain:	n/a	chr14:71786940-71786955 chr14:71786938-71786953
17	GABPA	chr14:71786532-71787778	MCF-7	breast:	n/a	chr14:71787745-71787754
18	CTCF	chr14:71786460-71786610	NHDF-neo	bronchial:	n/a	n/a
19	MAX	chr14:71786498-71787117	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:71786551-71789055	Hela-S3	cervix:	n/a	n/a
21	WRNIP1	chr14:71786378-71787335	GM12878	blood:	n/a	n/a
22	CTCF	chr14:71786460-71786610	HPF	lung:	n/a	n/a
23	RELA	chr14:71786441-71787437	GM19099	blood:	n/a	n/a
24	SMC3	chr14:71786409-71787397	GM12878	blood:	n/a	n/a
25	TAF1	chr14:71786562-71787847	MCF-7	breast:	n/a	n/a
26	ELF1	chr14:71786319-71787658	MCF-7	breast:	n/a	chr14:71786992-71787005
27	RAD21	chr14:71786367-71789133	IMR90	lung:	n/a	chr14:71787953-71787963 chr14:71787922-71787932 chr14:71787005-71787018 chr14:71787277-71787290 chr14:71787747-71787761
28	MYC	chr14:71786599-71788229	K562	blood:	n/a	chr14:71787309-71787319
29	CHD2	chr14:71786411-71787503	H1-hESC	embryonic stem cell:	n/a	chr14:71787028-71787037
30	HA-E2F1	chr14:71786466-71787266	MCF-7	breast:	n/a	chr14:71787014-71787024
31	CTCF	chr14:71786500-71786650	GM12878	blood:	n/a	n/a
32	BACH1	chr14:71786361-71787281	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZBTB33	chr14:71786515-71787577	SK-N-SH	brain:	n/a	chr14:71786976-71786991 chr14:71787433-71787440 chr14:71787026-71787041 chr14:71787028-71787037
34	REST	chr14:71786584-71788065	H1-neurons	neurons:	n/a	chr14:71787735-71787748
35	CTCF	chr14:71786480-71786630	GM12873	blood:	n/a	n/a
36	RCOR1	chr14:71786528-71788245	K562	blood:	n/a	n/a
37	POLR2A	chr14:71786373-71788364	Raji	blood:	n/a	n/a
38	MAZ	chr14:71786550-71788403	K562	blood:	n/a	chr14:71787309-71787319
39	CTCF	chr14:71786480-71786630	AoAF	blood vessel:	n/a	n/a
40	POLR2A	chr14:71786505-71788758	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr14:71786546-71788958	MCF-7	breast:	n/a	n/a
42	CTCF	chr14:71786480-71786630	NHDF-neo	bronchial:	n/a	n/a
43	GATA3	chr14:71786585-71787850	MCF-7	breast:	n/a	chr14:71787333-71787343
44	RAD21	chr14:71786162-71790206	SK-N-SH	brain:	n/a	chr14:71789547-71789566 chr14:71787953-71787963 chr14:71787922-71787932 chr14:71787005-71787018 chr14:71787277-71787290 chr14:71787747-71787761
45	SIN3AK20	chr14:71786208-71789791	MCF-7	breast:	n/a	n/a
46	CHD2	chr14:71786488-71788320	GM12878	blood:	n/a	chr14:71787550-71787560 chr14:71787028-71787037 chr14:71787925-71787935
47	POLR2A	chr14:71786571-71787398	PBDE	blood:	n/a	n/a
48	CTCF	chr14:71786460-71786610	Caco-2	colon:	n/a	n/a
49	MXI1	chr14:71786207-71788476	IMR90	lung:	n/a	chr14:71786940-71786955 chr14:71786938-71786953
50	RAD21	chr14:71786403-71786929	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71647115..71649453-chr14:71786412..71788278,2	MCF-7	breast:
2	chr14:71780085..71783168-chr14:71784973..71787067,3	K562	blood:
3	chr14:71776798..71778756-chr14:71785140..71789113,3	MCF-7	breast:

Variant related genes	Relation type
SIPA1L1	TF binding region
ENSG00000259146	Chromatin interaction
ENSG00000259907	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	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv3405849	chr14:71786224-71789072	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr14:71786000-71789200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:71786200-71786800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:71786200-71786800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:71786200-71786800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:71786200-71786800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr14:71786200-71786800	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr14:71786200-71786800	Flanking Active TSS	Hela-S3	cervix
8	chr14:71786200-71787000	Flanking Active TSS	Liver	Liver
9	chr14:71786200-71787000	Flanking Active TSS	GM12878-XiMat	blood
10	chr14:71786200-71788600	Active TSS	Fetal Stomach	stomach
11	chr14:71786200-71789000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr14:71786200-71789200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:71786200-71789200	Active TSS	Stomach Smooth Muscle	stomach
14	chr14:71786200-71789600	Active TSS	Rectal Smooth Muscle	rectum
15	chr14:71786200-71790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:71786400-71786800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:71786400-71786800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:71786400-71786800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr14:71786400-71786800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr14:71786400-71786800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:71786400-71786800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr14:71786400-71786800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:71786400-71786800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr14:71786400-71786800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:71786400-71786800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:71786400-71786800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:71786400-71786800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr14:71786400-71786800	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr14:71786400-71786800	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr14:71786400-71786800	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr14:71786400-71786800	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr14:71786400-71786800	Flanking Active TSS	Fetal Kidney	kidney
33	chr14:71786400-71786800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr14:71786400-71786800	Flanking Active TSS	Psoas Muscle	Psoas
35	chr14:71786400-71786800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr14:71786400-71786800	Enhancers	Small Intestine	intestine
37	chr14:71786400-71786800	Flanking Active TSS	HepG2	liver
38	chr14:71786400-71786800	Flanking Active TSS	NH-A	brain
39	chr14:71786400-71786800	Flanking Active TSS	NHEK	skin
40	chr14:71786400-71786800	Flanking Active TSS	NHLF	lung
41	chr14:71786400-71787000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr14:71786400-71787000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr14:71786400-71787000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr14:71786400-71787000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr14:71786400-71787000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:71786400-71787000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr14:71786400-71787000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr14:71786400-71787000	Flanking Active TSS	Thymus	Thymus
49	chr14:71786400-71787000	Enhancers	Spleen	Spleen
50	chr14:71786400-71787000	Flanking Active TSS	Dnd41	blood

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