Variant report

Variant	rs1040904
Chromosome Location	chr14:21769193-21769194
allele	A/C
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	chr14:21769140-21769290	GM12871	blood:	n/a	n/a
2	CTCF	chr14:21769120-21769270	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr14:21769160-21769310	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr14:21769140-21769290	GM12872	blood:	n/a	n/a
5	EBF1	chr14:21769060-21769431	GM12878	blood:	n/a	n/a
6	SIN3A	chr14:21769061-21769325	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr14:21769140-21769290	GM12864	blood:	n/a	n/a
8	RUNX3	chr14:21768852-21769391	GM12878	blood:	n/a	n/a
9	CTCF	chr14:21769177-21769322	Gliobla	brain:	n/a	n/a
10	RUNX3	chr14:21768908-21769404	GM12878	blood:	n/a	n/a
11	YY1	chr14:21769067-21769381	ECC-1	luminal epithelium:	n/a	n/a
12	HDAC2	chr14:21769141-21769392	H1-hESC	embryonic stem cell:	n/a	n/a
13	GABPA	chr14:21769062-21769403	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr14:21769096-21769371	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr14:21769160-21769310	HRPEpiC	eye:	n/a	n/a
16	MAX	chr14:21768986-21769362	SK-N-SH	brain:	n/a	chr14:21769101-21769110 chr14:21769101-21769111 chr14:21769101-21769111 chr14:21769099-21769112 chr14:21769099-21769112 chr14:21769100-21769110 chr14:21769100-21769111 chr14:21769100-21769111 chr14:21769101-21769110 chr14:21769100-21769111 chr14:21769099-21769107 chr14:21769102-21769109 chr14:21769099-21769112
17	NFIC	chr14:21768978-21769336	GM12878	blood:	n/a	n/a
18	USF1	chr14:21768929-21769313	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr14:21768978-21769575	H1-hESC	embryonic stem cell:	n/a	chr14:21769101-21769110 chr14:21769101-21769111 chr14:21769101-21769111 chr14:21769099-21769112 chr14:21769099-21769112 chr14:21769100-21769110 chr14:21769100-21769111 chr14:21769100-21769111 chr14:21769101-21769110 chr14:21769100-21769111 chr14:21769099-21769107 chr14:21769102-21769109 chr14:21769099-21769112
20	CTCF	chr14:21769160-21769310	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr14:21769023-21769521	MCF-7	breast:	n/a	chr14:21769469-21769487
22	CTCF	chr14:21769118-21769391	MCF-7	breast:	n/a	n/a
23	RAD21	chr14:21769098-21769397	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr14:21769066-21769486	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr14:21769145-21769368	MCF-7	breast:	n/a	n/a
26	MXI1	chr14:21768833-21769761	SK-N-SH	brain:	n/a	chr14:21769100-21769109
27	CTCF	chr14:21769168-21769364	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr14:21769069-21769364	GM12891	blood:	n/a	n/a
29	CTCF	chr14:21769160-21769310	GM12866	blood:	n/a	n/a
30	RAD21	chr14:21769057-21769404	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr14:21769050-21769295	GM12878	blood:	n/a	chr14:21769101-21769110 chr14:21769101-21769111 chr14:21769101-21769111 chr14:21769099-21769112 chr14:21769099-21769112 chr14:21769100-21769110 chr14:21769100-21769111 chr14:21769100-21769111 chr14:21769101-21769110 chr14:21769100-21769111 chr14:21769099-21769107 chr14:21769102-21769109 chr14:21769099-21769112
32	MAX	chr14:21768924-21769676	H1-hESC	embryonic stem cell:	n/a	chr14:21769101-21769110 chr14:21769101-21769111 chr14:21769101-21769111 chr14:21769099-21769112 chr14:21769099-21769112 chr14:21769100-21769110 chr14:21769100-21769111 chr14:21769100-21769111 chr14:21769101-21769110 chr14:21769100-21769111 chr14:21769099-21769107 chr14:21769102-21769109 chr14:21769099-21769112
33	POU2F2	chr14:21769022-21769252	GM12891	blood:	n/a	n/a
34	TCF3	chr14:21769082-21769465	GM12878	blood:	n/a	n/a
35	HA-E2F1	chr14:21768934-21769526	MCF-7	breast:	n/a	n/a
36	YY1	chr14:21769098-21769308	GM12892	blood:	n/a	n/a
37	YY1	chr14:21769018-21769591	H1-hESC	embryonic stem cell:	n/a	n/a
38	PAX5	chr14:21769073-21769373	GM12878	blood:	n/a	n/a
39	MYC	chr14:21768947-21769450	NB4	blood:	n/a	chr14:21769101-21769110 chr14:21769101-21769111 chr14:21769101-21769111 chr14:21769099-21769112 chr14:21769099-21769112 chr14:21769100-21769110 chr14:21769100-21769111 chr14:21769100-21769111 chr14:21769101-21769110 chr14:21769100-21769111 chr14:21769099-21769107 chr14:21769102-21769109 chr14:21769099-21769112
40	TEAD4	chr14:21769071-21769383	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr14:21769021-21769598	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr14:21769140-21769290	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr14:21769180-21769330	GM12874	blood:	n/a	n/a
44	CTCF	chr14:21769120-21769270	GM12878	blood:	n/a	n/a
45	RAD21	chr14:21768974-21769487	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr14:21769119-21769385	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:21769127-21769387	MCF-7	breast:	n/a	n/a
48	GTF2F1	chr14:21769012-21769434	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr14:21769140-21769290	SAEC	small airway:	n/a	n/a
50	MYC	chr14:21769187-21769353	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21769176-21769226	AG04449	skin:	fetal
2	chr14:21769176-21769226	HRCEpiC	kidney:	n/a
3	chr14:21769176-21769226	NHBE	bronchial:	n/a
4	chr14:21769176-21769226	AG04450	lung:	fetal
5	chr14:21769176-21769226	GM12891	blood:	n/a
6	chr14:21769176-21769226	HNPCEpiC	eye:	n/a
7	chr14:21769176-21769226	HCPEpiC	choroid plexus:	n/a
8	chr14:21769176-21769226	AG10803	skin:	n/a
9	chr14:21769176-21769226	RPTEC	kidney:	n/a
10	chr14:21769176-21769226	U87	brain:	n/a
11	chr14:21769176-21769226	H1-hESC	embryonic stem cell:	embryo
12	chr14:21769176-21769226	K562	blood:	n/a
13	chr14:21769176-21769226	Caco-2	colon:	n/a
14	chr14:21769176-21769226	Hepatocyte	liver:	n/a
15	chr14:21769176-21769226	GM12892	blood:	n/a
16	chr14:21769176-21769226	BE2_C	brain:	n/a
17	chr14:21769176-21769226	SAEC	small airway:	n/a
18	chr14:21769176-21769226	HAEpiC	amniotic membrane:	n/a
19	chr14:21769176-21769226	ovcar-3	ovarian:	n/a
20	chr14:21769176-21769226	PANC-1	pancreas:	n/a
21	chr14:21769176-21769226	HEK293	kidney:	embryo
22	chr14:21769176-21769226	PrEC	prostate:	n/a
23	chr14:21769176-21769226	HEEpiC	esophagus:	n/a
24	chr14:21769176-21769226	Hela-S3	cervix:	n/a
25	chr14:21769176-21769226	NB4	blood:	n/a
26	chr14:21769176-21769226	GM12878	blood:	n/a
27	chr14:21769176-21769226	HRPEpiC	eye:	n/a
28	chr14:21769176-21769226	SK-N-SH_RA	brain:	n/a
29	chr14:21769176-21769226	NH-A	brain:	n/a
30	chr14:21769176-21769226	GM06990	blood:	n/a
31	chr14:21769176-21769226	AG09309	skin:	n/a
32	chr14:21769176-21769226	AG09319	gingival:	n/a
33	chr14:21769176-21769226	HCM	heart:	n/a
34	chr14:21769176-21769226	NT2-D1	testis:	n/a
35	chr14:21769176-21769226	HMEC	breast:	n/a
36	chr14:21769176-21769226	SK-N-MC	brain:	n/a
37	chr14:21769176-21769226	BJ	skin:	n/a
38	chr14:21769176-21769226	SKMC	muscle:	n/a
39	chr14:21769176-21769226	HIPEpiC	eye:	n/a
40	chr14:21769176-21769226	HepG2	liver:	n/a
41	chr14:21769176-21769226	GM19239	blood:	n/a
42	chr14:21769176-21769226	CMK	blood:	n/a
43	chr14:21769176-21769226	PFSK-1	brain:	n/a
44	chr14:21769176-21769226	MCF-7	breast:	n/a
45	chr14:21769176-21769226	MCF10A-Er-Src	breast:	n/a
46	chr14:21769176-21769226	Jurkat	blood:	n/a
47	chr14:21769176-21769226	AoSMC	blood vessel:	n/a
48	chr14:21769176-21769226	HCT-116	colon:	n/a
49	chr14:21769176-21769226	HRE	kidney:	n/a
50	chr14:21769176-21769226	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21736080..21739636-chr14:21765775..21769584,7	MCF-7	breast:

Variant related genes	Relation type
RPGRIP1	TF binding region
RPGRIP1	CpG island
ENSG00000092199	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10152076	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	esv3339520	chr14:21741166-21806074	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv1054778	chr14:21762940-21802579	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21767600-21776600	Weak transcription	Placenta	Placenta
2	chr14:21768600-21769400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
3	chr14:21768800-21769200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:21768800-21769200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr14:21768800-21769200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr14:21768800-21769400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:21768800-21769400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:21768800-21769400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr14:21768800-21769600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr14:21769000-21769200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr14:21769000-21769200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:21769000-21769200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:21769000-21769200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:21769000-21769200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr14:21769000-21769200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:21769000-21769200	Active TSS	Primary B cells from cord blood	blood
18	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
19	chr14:21769000-21769200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr14:21769000-21769200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:21769000-21769200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
22	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
25	chr14:21769000-21769200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:21769000-21769200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
27	chr14:21769000-21769200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr14:21769000-21769200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr14:21769000-21769200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:21769000-21769200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
32	chr14:21769000-21769200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
34	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	Fetal Heart	heart
35	chr14:21769000-21769200	Active TSS	Fetal Intestine Small	intestine
36	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
37	chr14:21769000-21769200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr14:21769000-21769200	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr14:21769000-21769200	Active TSS	Gastric	stomach
40	chr14:21769000-21769200	Active TSS	Psoas Muscle	Psoas
41	chr14:21769000-21769200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
42	chr14:21769000-21769200	Bivalent Enhancer	Small Intestine	intestine
43	chr14:21769000-21769200	Active TSS	Thymus	Thymus
44	chr14:21769000-21769200	Bivalent/Poised TSS	HMEC	breast
45	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
46	chr14:21769000-21769200	Flanking Bivalent TSS/Enh	NHEK	skin
47	chr14:21769000-21769400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:21769000-21769400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:21769000-21769400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:21769000-21769400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links