Variant report

Variant	rs1980674
Chromosome Location	chr14:38069192-38069193
allele	C/T
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	CTBP2	chr14:38068571-38069679	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr14:38068937-38069699	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:38068951-38069220	MCF-7	breast:	n/a	n/a
4	CTCF	chr14:38069180-38069330	HA-sp	spinal cord:	n/a	n/a
5	TEAD4	chr14:38069093-38069591	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr14:38068853-38069689	H1-hESC	embryonic stem cell:	n/a	chr14:38069243-38069250 chr14:38069243-38069250 chr14:38069243-38069250 chr14:38069672-38069682
7	MAX	chr14:38069159-38069555	H1-hESC	embryonic stem cell:	n/a	n/a
8	SUZ12	chr14:38066159-38069589	NT2-D1	testis:	n/a	n/a
9	CTCF	chr14:38069120-38069270	HBMEC	blood vessel:	n/a	n/a
10	RAD21	chr14:38069144-38069470	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:38068988-38069668	H1-neurons	neurons:	n/a	n/a
12	MAX	chr14:38068999-38069531	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr14:38068632-38069402	H1-neurons	neurons:	n/a	n/a
14	GABPA	chr14:38068549-38069386	MCF-7	breast:	n/a	n/a
15	BACH1	chr14:38068750-38069407	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF143	chr14:38068858-38069507	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr14:38068818-38069647	H1-hESC	embryonic stem cell:	n/a	chr14:38069243-38069250 chr14:38069243-38069250 chr14:38069243-38069250
18	SUZ12	chr14:38066939-38069700	H1-hESC	embryonic stem cell:	n/a	n/a
19	KAP1	chr14:38068858-38069487	HEK293	kidney:	n/a	n/a
20	GTF2F1	chr14:38069164-38069436	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr14:38068742-38069249	MCF-7	breast:	n/a	n/a
22	TAF1	chr14:38069012-38069415	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:38064575..38066712-chr14:38067823..38069498,2	K562	blood:
2	chr14:38064570..38066790-chr14:38067298..38069207,2	K562	blood:

Variant related genes	Relation type
FOXA1	TF binding region
ENSG00000139865	Chromatin interaction
ENSG00000129514	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34394617	1.00[ASN][1000 genomes]
rs72674255	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674268	1.00[ASN][1000 genomes]
rs72674270	1.00[ASN][1000 genomes]
rs72674287	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38065000-38069600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr14:38066600-38070000	Weak transcription	A549	lung
3	chr14:38066800-38069600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr14:38067000-38069200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
5	chr14:38067000-38069200	Strong transcription	HepG2	liver
6	chr14:38067000-38069400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr14:38067000-38069400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr14:38067000-38069400	Bivalent Enhancer	Brain Substantia Nigra	brain
9	chr14:38067000-38069400	Bivalent Enhancer	Colon Smooth Muscle	Colon
10	chr14:38067000-38069400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr14:38067000-38069600	Enhancers	Pancreas	Pancrea
12	chr14:38067200-38069200	Bivalent Enhancer	Fetal Brain Male	brain
13	chr14:38067200-38069400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr14:38067200-38069400	Bivalent Enhancer	Brain Anterior Caudate	brain
15	chr14:38067200-38069600	Active TSS	Gastric	stomach
16	chr14:38067400-38069200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
17	chr14:38067400-38069200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
18	chr14:38067400-38069200	Bivalent/Poised TSS	Small Intestine	intestine
19	chr14:38067400-38069400	ZNF genes & repeats	Spleen	Spleen
20	chr14:38067600-38069200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:38067800-38069400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr14:38067800-38069600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr14:38067800-38069600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr14:38067800-38069600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr14:38067800-38069600	Bivalent Enhancer	Left Ventricle	heart
26	chr14:38068000-38069200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:38068000-38069600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:38068200-38069200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
29	chr14:38068200-38069400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr14:38068200-38069400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
31	chr14:38068400-38069400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:38068400-38069400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:38068400-38069400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr14:38068400-38069400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr14:38068400-38069400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr14:38068400-38069600	Bivalent Enhancer	Fetal Heart	heart
37	chr14:38068400-38069600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr14:38068600-38069200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr14:38068600-38069200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr14:38068600-38069200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:38068600-38069200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:38068600-38069200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:38068600-38069200	Bivalent Enhancer	Fetal Brain Female	brain
44	chr14:38068600-38069400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr14:38068600-38069400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:38068600-38069400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:38068600-38069400	Flanking Active TSS	Liver	Liver
48	chr14:38068600-38069600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:38068600-38069600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:38068600-38069600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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