Variant report

Variant	rs375817040
Chromosome Location	chr14:66976126-66976127
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	REST	chr14:66976122-66976397	Hela-S3	cervix:	n/a	n/a
2	MYC	chr14:66973825-66976185	K562	blood:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
3	TCF7L2	chr14:66974089-66976215	Hela-S3	cervix:	n/a	n/a
4	MYC	chr14:66973825-66976156	K562	blood:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
5	MAX	chr14:66973868-66976356	HCT-116	colon:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
6	MAX	chr14:66975418-66976283	K562	blood:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
7	WRNIP1	chr14:66975652-66976398	GM12878	blood:	n/a	n/a
8	MAX	chr14:66975570-66976452	ECC-1	luminal epithelium:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
9	ZNF143	chr14:66975779-66976151	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:66976044-66976250	GM12878	blood:	n/a	n/a
11	MAX	chr14:66973852-66976379	GM12878	blood:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
12	MAX	chr14:66973906-66976300	Hela-S3	cervix:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
13	HA-E2F1	chr14:66973595-66976318	MCF-7	breast:	n/a	chr14:66974519-66974529 chr14:66974735-66974747 chr14:66974641-66974652
14	TAF1	chr14:66974157-66976249	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr14:66974023-66976445	H1-neurons	neurons:	n/a	n/a
16	NFIC	chr14:66975465-66976397	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:66975709-66976348	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr14:66973857-66976351	GM12891	blood:	n/a	n/a
19	SIN3A	chr14:66974072-66976966	GM12878	blood:	n/a	chr14:66976874-66976883 chr14:66975342-66975355 chr14:66974495-66974509
20	MAZ	chr14:66974296-66976419	GM12878	blood:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
21	RUNX3	chr14:66976036-66976467	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:66973916-66976266	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr14:66974065-66976385	Hela-S3	cervix:	n/a	n/a
24	REST	chr14:66976038-66976475	Hela-S3	cervix:	n/a	n/a
25	ZNF263	chr14:66973968-66976350	HEK293-T-REx	kidney:	n/a	chr14:66974764-66974785 chr14:66975400-66975409 chr14:66975317-66975326 chr14:66974770-66974779
26	POLR2A	chr14:66973923-66976336	GM19099	blood:	n/a	n/a
27	POLR2A	chr14:66974090-66976463	H1-neurons	neurons:	n/a	n/a
28	REST	chr14:66973750-66977091	H1-neurons	neurons:	n/a	chr14:66974498-66974508 chr14:66975342-66975351 chr14:66975591-66975604 chr14:66975342-66975355 chr14:66974496-66974510 chr14:66975615-66975628 chr14:66974699-66974719 chr14:66975920-66975940 chr14:66975573-66975586 chr14:66974723-66974736 chr14:66974502-66974515 chr14:66975671-66975684
29	POLR2A	chr14:66974196-66976153	GM12878	blood:	n/a	n/a
30	PAX5	chr14:66976036-66976333	GM12878	blood:	n/a	n/a
31	MXI1	chr14:66973689-66977167	SK-N-SH	brain:	n/a	n/a
32	POU2F2	chr14:66975505-66976415	GM12878	blood:	n/a	chr14:66975588-66975600
33	MXI1	chr14:66973758-66976994	IMR90	lung:	n/a	n/a
34	ELK1	chr14:66976036-66976203	Hela-S3	cervix:	n/a	n/a
35	RCOR1	chr14:66974057-66976198	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr14:66973979-66976316	GM18951	blood:	n/a	n/a
37	BHLHE40	chr14:66973863-66976828	GM12878	blood:	n/a	chr14:66974231-66974244 chr14:66975578-66975594
38	POLR2A	chr14:66973885-66976297	GM12892	blood:	n/a	n/a
39	POLR2A	chr14:66975442-66976226	GM12878	blood:	n/a	n/a
40	RCOR1	chr14:66973966-66976469	IMR90	lung:	n/a	n/a
41	POLR2A	chr14:66973915-66976328	GM12878	blood:	n/a	n/a
42	RELA	chr14:66974169-66976140	GM15510	blood:	n/a	n/a
43	MAX	chr14:66973952-66976322	SK-N-SH	brain:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
44	CHD2	chr14:66974037-66976238	Hela-S3	cervix:	n/a	chr14:66975315-66975325
45	POLR2A	chr14:66974045-66976140	GM12878	blood:	n/a	n/a
46	FOXM1	chr14:66974336-66976170	GM12878	blood:	n/a	n/a
47	MAX	chr14:66973847-66976449	A549	lung:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
48	MAX	chr14:66975571-66976429	ECC-1	luminal epithelium:	n/a	chr14:66975731-66975741 chr14:66975767-66975776
49	RELA	chr14:66973918-66976369	GM18951	blood:	n/a	n/a
50	MAZ	chr14:66974031-66976351	IMR90	lung:	n/a	chr14:66975731-66975741 chr14:66975767-66975776

No.	Distal block	Cell Line	Cell type
1	chr14:66961069..66963949-chr14:66975127..66976775,2	K562	blood:
2	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
3	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258561	TF binding region
ENSG00000196553	Chromatin interaction
ENSG00000258561	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv983837	chr14:66619600-67014519	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933275	chr14:66649843-67024881	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv2755038	chr14:66869437-67041440	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv933170	chr14:66945507-67094868	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv2755473	chr14:66962747-67177647	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv902027	chr14:66975857-67059231	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr14:66973400-66976200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:66973400-66976800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:66973600-66976200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:66973600-66976200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:66973600-66976200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:66973600-66976200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr14:66973600-66976400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:66973600-66976400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:66973600-66976400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr14:66973600-66976600	Active TSS	Colon Smooth Muscle	Colon
11	chr14:66973600-66976600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr14:66973600-66976800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:66973600-66976800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:66973600-66976800	Active TSS	NHLF	lung
15	chr14:66973600-66977800	Active TSS	GM12878-XiMat	blood
16	chr14:66973800-66976200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr14:66973800-66976200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:66973800-66976200	Active TSS	Fetal Stomach	stomach
19	chr14:66973800-66976400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:66973800-66976400	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr14:66973800-66976400	Active TSS	Stomach Mucosa	stomach
22	chr14:66973800-66976600	Active TSS	Brain Cingulate Gyrus	brain
23	chr14:66973800-66976600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr14:66973800-66976600	Active TSS	Fetal Intestine Large	intestine
25	chr14:66973800-66976600	Active TSS	Fetal Kidney	kidney
26	chr14:66973800-66976600	Active TSS	Ovary	ovary
27	chr14:66973800-66976600	Active TSS	Rectal Smooth Muscle	rectum
28	chr14:66973800-66976600	Active TSS	HSMM	muscle
29	chr14:66973800-66976800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:66973800-66976800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:66973800-66976800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:66973800-66976800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:66973800-66976800	Active TSS	Fetal Intestine Small	intestine
34	chr14:66973800-66976800	Active TSS	Psoas Muscle	Psoas
35	chr14:66973800-66976800	Active TSS	Right Ventricle	heart
36	chr14:66973800-66976800	Active TSS	HMEC	breast
37	chr14:66973800-66977000	Active TSS	Fetal Brain Female	brain
38	chr14:66974000-66976200	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr14:66974000-66976200	Bivalent/Poised TSS	HepG2	liver
40	chr14:66974000-66976400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:66974000-66976400	Active TSS	Esophagus	oesophagus
42	chr14:66974000-66976400	Active TSS	Left Ventricle	heart
43	chr14:66974000-66976400	Active TSS	Lung	lung
44	chr14:66974000-66976400	Active TSS	Placenta Amnion	Placenta Amnion
45	chr14:66974000-66976400	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr14:66974000-66976400	Active TSS	Small Intestine	intestine
47	chr14:66974000-66976600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr14:66974000-66976600	Active TSS	Aorta	Aorta
49	chr14:66974200-66976200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr14:66974200-66976200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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