Variant report

Variant	rs4981500
Chromosome Location	chr14:24770016-24770017
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:23)
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	CREB1	chr14:24767821-24770048	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24768270-24770150	GM12878	blood:	n/a	n/a
3	RUNX3	chr14:24769811-24770104	GM12878	blood:	n/a	n/a
4	MYBL2	chr14:24767965-24770192	HepG2	liver:	n/a	n/a
5	CREB1	chr14:24767655-24770253	HepG2	liver:	n/a	n/a
6	MXI1	chr14:24767949-24770057	IMR90	lung:	n/a	n/a
7	ZNF263	chr14:24769572-24770032	HEK293-T-REx	kidney:	n/a	chr14:24769851-24769872

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24769506..24771314-chr14:24788379..24791495,3	K562	blood:
2	chr14:24769037..24771886-chr14:24904413..24906460,2	MCF-7	breast:
3	chr14:24701050..24707093-chr14:24765824..24771703,7	K562	blood:
4	chr14:24680927..24686311-chr14:24766466..24771455,6	K562	blood:
5	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
6	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
7	chr14:24767930..24771021-chr14:24792565..24795803,5	MCF-7	breast:
8	chr14:24504090..24505966-chr14:24768791..24770568,2	MCF-7	breast:
9	chr14:24767332..24771774-chr14:24910139..24913002,7	MCF-7	breast:
10	chr14:24767097..24775014-chr14:24779936..24787049,14	MCF-7	breast:
11	chr14:24765284..24770509-chr14:24899183..24903551,4	MCF-7	breast:
12	chr14:24740443..24742571-chr14:24769665..24772196,4	K562	blood:
13	chr14:24769087..24772179-chr14:24900488..24904117,5	K562	blood:
14	chr14:24768871..24772362-chr14:24798723..24803416,4	MCF-7	breast:
15	chr14:24768412..24770961-chr14:24898867..24900397,2	K562	blood:
16	chr14:24767708..24770495-chr14:24910481..24913051,4	MCF-7	breast:
17	chr14:24759089..24762221-chr14:24766736..24770177,4	MCF-7	breast:
18	chr14:24768283..24771076-chr14:24807728..24810560,2	MCF-7	breast:
19	chr14:24766804..24771569-chr14:24898237..24903800,5	MCF-7	breast:
20	chr14:24675521..24677265-chr14:24767958..24770679,2	K562	blood:
21	chr14:24673611..24677021-chr14:24767958..24770274,3	K562	blood:
22	chr14:24769018..24771644-chr14:24778129..24781269,3	K562	blood:
23	chr14:24768588..24770601-chr14:24787605..24789791,2	MCF-7	breast:

No data

Variant related genes	Relation type
NOP9	TF binding region
DHRS1	TF binding region
LTB4R2	TF binding region
ENSG00000213920	Chromatin interaction
ENSG00000139908	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000272658	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000225766	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000255526	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10138006	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs11574512	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17101962	1.00[CHB][hapmap]
rs2144489	1.00[CHB][hapmap]
rs2144490	1.00[CHB][hapmap]
rs2229464	1.00[CHB][hapmap]
rs2516564	1.00[CHB][hapmap]
rs2855009	1.00[CHB][hapmap]
rs7147300	1.00[CEU][hapmap]
rs7155723	1.00[CHD][hapmap]
rs7157364	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24767800-24770400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:24768000-24770200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:24768000-24770200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:24768000-24770200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:24768000-24770200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:24768000-24770400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:24768000-24770400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr14:24768200-24770200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr14:24768200-24770200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr14:24768200-24770400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr14:24769200-24770200	Flanking Active TSS	Fetal Brain Female	brain
12	chr14:24769400-24770200	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr14:24769400-24770200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr14:24769400-24770200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr14:24769400-24770200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr14:24769400-24770200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:24769400-24770200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:24769400-24770200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:24769400-24770200	Flanking Active TSS	Liver	Liver
20	chr14:24769400-24770200	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr14:24769400-24770200	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr14:24769400-24770200	Flanking Active TSS	Colonic Mucosa	Colon
23	chr14:24769400-24770200	Flanking Active TSS	Fetal Brain Male	brain
24	chr14:24769400-24770200	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr14:24769400-24770200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr14:24769400-24770200	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr14:24769400-24770200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr14:24769400-24770200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr14:24769400-24770200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr14:24769400-24770200	Flanking Active TSS	HUVEC	blood vessel
31	chr14:24769400-24770400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:24769400-24770400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:24769400-24770400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:24769400-24770400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:24769400-24770400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr14:24769400-24770600	Flanking Active TSS	Dnd41	blood
37	chr14:24769600-24770200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:24769600-24770200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:24769600-24770200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:24769600-24770200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr14:24769600-24770200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr14:24769600-24770200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr14:24769600-24770200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr14:24769600-24770200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr14:24769600-24770200	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr14:24769600-24770200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr14:24769600-24770200	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr14:24769600-24770200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr14:24769600-24770200	Flanking Active TSS	Hela-S3	cervix
50	chr14:24769600-24770200	Flanking Active TSS	HMEC	breast

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