Variant report

Variant	rs61978215
Chromosome Location	chr14:70655977-70655978
allele	G/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	SIN3A	chr14:70655018-70656129	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr14:70655403-70656136	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:70653429-70656099	GM18951	blood:	n/a	n/a
4	HDAC2	chr14:70655199-70656331	MCF-7	breast:	n/a	chr14:70656264-70656278
5	TAF1	chr14:70655550-70656012	H1-neurons	neurons:	n/a	n/a
6	GATA2	chr14:70655342-70656107	SH-SY5Y	brain:	n/a	n/a
7	REST	chr14:70655412-70656052	H1-neurons	neurons:	n/a	n/a
8	SRF	chr14:70655396-70655991	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:70654077-70656212	H1-neurons	neurons:	n/a	n/a
10	MAZ	chr14:70654362-70656080	GM12878	blood:	n/a	n/a
11	REST	chr14:70653864-70656399	H1-neurons	neurons:	n/a	chr14:70656270-70656290 chr14:70656271-70656289 chr14:70656270-70656290
12	POLR2A	chr14:70655433-70656098	MCF-7	breast:	n/a	n/a
13	MXI1	chr14:70653257-70657609	SK-N-SH	brain:	n/a	chr14:70654787-70654796
14	HA-E2F1	chr14:70655411-70656314	MCF-7	breast:	n/a	chr14:70655979-70655988 chr14:70656064-70656079
15	POLR2A	chr14:70655433-70656072	MCF-7	breast:	n/a	n/a
16	POLR2A	chr14:70655140-70656117	GM10847	blood:	n/a	n/a
17	MAX	chr14:70655420-70656050	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr14:70655840-70655990	GM12874	blood:	n/a	n/a
19	POLR2A	chr14:70653504-70656076	GM19193	blood:	n/a	n/a
20	POLR2A	chr14:70653530-70656092	GM18526	blood:	n/a	n/a
21	POLR2A	chr14:70653469-70656065	GM15510	blood:	n/a	n/a
22	POLR2A	chr14:70653475-70656089	GM19099	blood:	n/a	n/a
23	POLR2A	chr14:70655325-70656192	H1-neurons	neurons:	n/a	n/a
24	ZNF263	chr14:70655490-70656191	HEK293-T-REx	kidney:	n/a	n/a
25	POLR2A	chr14:70654212-70656008	GM18505	blood:	n/a	n/a
26	TAF1	chr14:70655397-70656120	H1-neurons	neurons:	n/a	n/a
27	ELF1	chr14:70655183-70656168	GM12878	blood:	n/a	n/a
28	RELA	chr14:70654284-70656028	GM15510	blood:	n/a	n/a
29	POLR2A	chr14:70655287-70656064	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
SLC8A3	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1044538	1.00[ASN][1000 genomes]
rs11621661	1.00[ASN][1000 genomes]
rs11623663	1.00[ASN][1000 genomes]
rs11624309	1.00[ASN][1000 genomes]
rs11624706	1.00[ASN][1000 genomes]
rs11627167	1.00[ASN][1000 genomes]
rs11627175	1.00[ASN][1000 genomes]
rs11627938	1.00[ASN][1000 genomes]
rs11845636	1.00[ASN][1000 genomes]
rs11845665	1.00[ASN][1000 genomes]
rs11846216	1.00[ASN][1000 genomes]
rs11846726	1.00[ASN][1000 genomes]
rs11849053	1.00[ASN][1000 genomes]
rs11849199	1.00[ASN][1000 genomes]
rs3859	1.00[ASN][1000 genomes]
rs45565842	1.00[ASN][1000 genomes]
rs58854929	1.00[ASN][1000 genomes]
rs61977472	1.00[ASN][1000 genomes]
rs61977473	1.00[ASN][1000 genomes]
rs61977474	1.00[ASN][1000 genomes]
rs61977478	1.00[ASN][1000 genomes]
rs61977479	1.00[ASN][1000 genomes]
rs61977501	1.00[ASN][1000 genomes]
rs61977502	1.00[ASN][1000 genomes]
rs61977508	1.00[ASN][1000 genomes]
rs61977509	1.00[ASN][1000 genomes]
rs61977511	1.00[ASN][1000 genomes]
rs61977535	1.00[ASN][1000 genomes]
rs61977538	1.00[ASN][1000 genomes]
rs61977539	1.00[ASN][1000 genomes]
rs61977540	1.00[ASN][1000 genomes]
rs61977541	1.00[ASN][1000 genomes]
rs61977544	1.00[ASN][1000 genomes]
rs61977549	1.00[ASN][1000 genomes]
rs61977550	1.00[ASN][1000 genomes]
rs61977551	1.00[ASN][1000 genomes]
rs61978216	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978217	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978220	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978221	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978222	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978248	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978250	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978251	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978255	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978257	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978259	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979460	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979461	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979462	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979464	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979466	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979467	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979481	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979482	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979483	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979485	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979488	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979502	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61979504	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61979505	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61979511	1.00[ASN][1000 genomes]
rs61979512	1.00[ASN][1000 genomes]
rs74062899	1.00[ASN][1000 genomes]
rs74065307	1.00[ASN][1000 genomes]
rs74065314	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70653200-70656400	Active TSS	HSMM	muscle
2	chr14:70653400-70656200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
3	chr14:70653400-70656400	Active TSS	Brain Angular Gyrus	brain
4	chr14:70653400-70656400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr14:70653400-70656600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr14:70653400-70656600	Active TSS	Fetal Brain Female	brain
7	chr14:70653600-70656000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr14:70653600-70656200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:70653600-70656200	Active TSS	Fetal Lung	lung
10	chr14:70653600-70656200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr14:70653600-70656600	Active TSS	HSMMtube	muscle
12	chr14:70653600-70656800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:70653600-70656800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr14:70653800-70656000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
15	chr14:70653800-70656200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr14:70653800-70656200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr14:70653800-70656200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:70653800-70656200	Active TSS	Brain Substantia Nigra	brain
19	chr14:70653800-70656200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr14:70653800-70656400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:70653800-70656400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr14:70653800-70656400	Active TSS	Psoas Muscle	Psoas
23	chr14:70654000-70656200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:70654000-70656200	Bivalent/Poised TSS	NHLF	lung
25	chr14:70654000-70656400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:70654200-70656000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:70654200-70656200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:70654200-70656200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
29	chr14:70654200-70656400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:70654200-70656400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr14:70654400-70656200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:70654400-70656200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:70654400-70656200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
34	chr14:70654400-70656400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:70654600-70656000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:70654600-70656000	Bivalent Enhancer	Small Intestine	intestine
37	chr14:70654600-70656200	Bivalent/Poised TSS	Osteobl	bone
38	chr14:70654800-70656000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr14:70654800-70656000	Bivalent/Poised TSS	Thymus	Thymus
40	chr14:70654800-70656200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr14:70654800-70656200	Bivalent/Poised TSS	A549	lung
42	chr14:70654800-70656400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr14:70655000-70656000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
44	chr14:70655000-70656000	Bivalent/Poised TSS	Left Ventricle	heart
45	chr14:70655000-70656000	Flanking Active TSS	Ovary	ovary
46	chr14:70655000-70656000	Active TSS	Rectal Smooth Muscle	rectum
47	chr14:70655000-70656200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr14:70655000-70656200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:70655000-70656200	Active TSS	Muscle Satellite Cultured Cells	--
50	chr14:70655000-70656200	Active TSS	Brain Anterior Caudate	brain

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