Variant report

Variant	rs11624014
Chromosome Location	chr14:21988277-21988278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21988070-21989046	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:21988086-21988600	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:21988074-21988721	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr14:21988252-21988748	K562	blood:	n/a	n/a
5	POLR2A	chr14:21988099-21988418	K562	blood:	n/a	n/a
6	POLR2A	chr14:21986868-21988765	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:21988189-21988357	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
ENSG00000257096	TF binding region
ENSG00000165821	Chromatin interaction
ENSG00000165819	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11627996	0.89[EUR][1000 genomes]
rs12891938	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2022747	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:47 , 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	chr14:21980000-21990000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:21980000-21993600	Weak transcription	Aorta	Aorta
4	chr14:21980200-21989000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:21980200-21989800	Weak transcription	Brain Germinal Matrix	brain
6	chr14:21980200-21990000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:21980200-21990000	Weak transcription	Ovary	ovary
8	chr14:21980200-21990200	Weak transcription	Primary T cells from cord blood	blood
9	chr14:21980200-21991400	Weak transcription	Fetal Kidney	kidney
10	chr14:21980200-21993400	Weak transcription	Right Atrium	heart
11	chr14:21980400-21988600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:21980400-21988800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:21980400-21989000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:21980400-21989800	Weak transcription	Brain Anterior Caudate	brain
15	chr14:21980400-21990000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:21980400-21990000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:21980400-21990200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:21980400-21990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:21980400-21991400	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:21980600-21991800	Weak transcription	Fetal Lung	lung
21	chr14:21980600-21991800	Weak transcription	Dnd41	blood
22	chr14:21980600-21993400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:21982600-21989600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:21982800-21988800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:21982800-21989000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:21982800-21992800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:21983000-21989800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:21983600-21991800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:21984800-21988400	Weak transcription	HepG2	liver
30	chr14:21985400-21989800	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:21986400-21990800	Weak transcription	Fetal Intestine Small	intestine
32	chr14:21986800-21989000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:21986800-21991600	Weak transcription	Thymus	Thymus
34	chr14:21987200-21990000	Weak transcription	Fetal Stomach	stomach
35	chr14:21987200-21990400	Weak transcription	Fetal Intestine Large	intestine
36	chr14:21987200-21993600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:21987600-21990000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:21987600-21990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:21987800-21989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:21988000-21989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:21988000-21989400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:21988000-21994200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:21988200-21989200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:21988200-21989400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:21988200-21989600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:21988200-21990000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:21988200-21990400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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