Variant report

Variant	rs72683981
Chromosome Location	chr14:21986761-21986762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21977943..21985344-chr14:21985568..21995608,22	MCF-7	breast:
2	chr14:21983078..21988753-chr14:21989442..21992555,6	MCF-7	breast:
3	chr14:21986110..21991599-chr14:21992205..21995667,7	MCF-7	breast:
4	chr14:21978010..21981856-chr14:21985023..21989241,7	MCF-7	breast:
5	chr14:21977163..21984004-chr14:21985497..21991656,11	K562	blood:

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction
ENSG00000165821	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72684736	1.00[AFR][1000 genomes]
rs72684742	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21979600-21989400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:21980000-21987200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:21980000-21990000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:21980000-21993600	Weak transcription	Aorta	Aorta
5	chr14:21980200-21988200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:21980200-21988200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:21980200-21989000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:21980200-21989800	Weak transcription	Brain Germinal Matrix	brain
9	chr14:21980200-21990000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:21980200-21990000	Weak transcription	Ovary	ovary
11	chr14:21980200-21990200	Weak transcription	Primary T cells from cord blood	blood
12	chr14:21980200-21991400	Weak transcription	Fetal Kidney	kidney
13	chr14:21980200-21993400	Weak transcription	Right Atrium	heart
14	chr14:21980400-21988600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:21980400-21988800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:21980400-21989000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:21980400-21989800	Weak transcription	Brain Anterior Caudate	brain
18	chr14:21980400-21990000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:21980400-21990000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:21980400-21990200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:21980400-21990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:21980400-21991400	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:21980600-21991800	Weak transcription	Fetal Lung	lung
24	chr14:21980600-21991800	Weak transcription	Dnd41	blood
25	chr14:21980600-21993400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:21982600-21989600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:21982800-21987000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:21982800-21988200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:21982800-21988800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:21982800-21989000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:21982800-21992800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:21983000-21989800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:21983200-21987000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:21983200-21987200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:21983200-21987400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:21983600-21991800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:21984800-21988400	Weak transcription	HepG2	liver
38	chr14:21985400-21989800	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:21986400-21987600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:21986400-21990800	Weak transcription	Fetal Intestine Small	intestine
41	chr14:21986600-21987800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links