Variant report

Variant	rs1047556
Chromosome Location	chr14:55600282-55600283
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:55599931-55600820	SK-N-SH	brain:	n/a	n/a
2	FOS	chr14:55600174-55600289	MCF10A-Er-Src	breast:	n/a	n/a
3	RAD21	chr14:55600048-55600705	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:55600081-55602200	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr14:55600154-55600517	SK-N-SH_RA	brain:	n/a	n/a
6	RAD21	chr14:55600016-55600635	MCF-7	breast:	n/a	n/a
7	JUND	chr14:55600038-55600390	K562	blood:	n/a	n/a
8	TEAD4	chr14:55600082-55600492	K562	blood:	n/a	n/a
9	CTCF	chr14:55600080-55600704	MCF-7	breast:	n/a	n/a
10	RCOR1	chr14:55600093-55600400	K562	blood:	n/a	n/a
11	CTCF	chr14:55600220-55600370	HAc	cerebellar:	n/a	n/a
12	CTCF	chr14:55600280-55600430	Caco-2	colon:	n/a	n/a
13	CTCF	chr14:55600165-55600587	HCT-116	colon:	n/a	n/a
14	RAD21	chr14:55600116-55600574	ECC-1	luminal epithelium:	n/a	n/a
15	RAD21	chr14:55600266-55600498	K562	blood:	n/a	n/a
16	RAD21	chr14:55600187-55600520	SK-N-SH_RA	brain:	n/a	n/a
17	FOXA1	chr14:55600281-55600528	T-47D	breast:	n/a	n/a
18	CTCF	chr14:55600258-55600487	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr14:55600260-55600410	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr14:55600197-55600606	T-47D	breast:	n/a	n/a
21	CTCF	chr14:55600266-55600558	IMR90	lung:	n/a	n/a
22	CTCF	chr14:55600133-55600679	MCF-7	breast:	n/a	n/a
23	CTCF	chr14:55600210-55600568	K562	blood:	n/a	n/a
24	RAD21	chr14:55600153-55600559	IMR90	lung:	n/a	n/a
25	CTCF	chr14:55599960-55600807	SK-N-SH	brain:	n/a	n/a
26	CTCF	chr14:55600220-55600370	NB4	blood:	n/a	n/a
27	CTCF	chr14:55600272-55600519	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:55600240-55600390	HA-sp	spinal cord:	n/a	n/a
29	POLR2A	chr14:55599874-55600511	Hela-S3	cervix:	n/a	n/a
30	SMC3	chr14:55600215-55600574	Hela-S3	cervix:	n/a	n/a
31	GATA3	chr14:55599854-55600556	SK-N-SH	brain:	n/a	n/a
32	SMC3	chr14:55599964-55600746	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr14:55600253-55600546	GM12878	blood:	n/a	n/a
34	RAD21	chr14:55600184-55600579	Hela-S3	cervix:	n/a	n/a
35	RAD21	chr14:55600106-55600752	HCT-116	colon:	n/a	n/a
36	MYC	chr14:55600225-55600515	NB4	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55599425..55601964-chr14:55602454..55605436,3	MCF-7	breast:
2	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
3	chr14:55359557..55360396-chr14:55599807..55600483,2	MCF-7	breast:
4	chr14:55517037..55520851-chr14:55594266..55601656,13	MCF-7	breast:
5	chr14:55555953..55557008-chr14:55599894..55600889,11	MCF-7	breast:
6	chr14:55597715..55602179-chr14:55607312..55610754,5	MCF-7	breast:

No data

Variant related genes	Relation type
LGALS3	TF binding region
ENSG00000131981	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1009977	0.97[EUR][1000 genomes]
rs1009978	0.95[EUR][1000 genomes]
rs10134800	0.87[EUR][1000 genomes]
rs10137409	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10140857	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10147667	0.93[EUR][1000 genomes]
rs10149435	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10438127	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11621351	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622636	0.91[ASN][1000 genomes]
rs11622740	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs15870	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17128183	0.88[EUR][1000 genomes]
rs17253695	0.86[ASN][1000 genomes]
rs17672058	0.91[ASN][1000 genomes]
rs17832359	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1815316	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075601	0.91[EUR][1000 genomes]
rs2075602	0.91[EUR][1000 genomes]
rs2075603	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2094102	0.97[EUR][1000 genomes]
rs2094436	0.91[ASN][1000 genomes]
rs2147970	0.91[ASN][1000 genomes]
rs2147972	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182207	0.96[ASN][1000 genomes]
rs2296489	0.92[ASN][1000 genomes]
rs2340931	0.95[EUR][1000 genomes]
rs2340936	0.90[ASN][1000 genomes]
rs28429419	0.90[EUR][1000 genomes]
rs3742566	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759667	0.91[ASN][1000 genomes]
rs3818451	0.82[EUR][1000 genomes]
rs3825613	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4040064	0.82[ASN][1000 genomes]
rs4525413	0.85[ASN][1000 genomes]
rs4644	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4652	0.89[EUR][1000 genomes]
rs55710823	0.98[ASN][1000 genomes]
rs56660630	0.85[EUR][1000 genomes]
rs57033289	0.93[ASN][1000 genomes]
rs57970196	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58269011	0.82[ASN][1000 genomes]
rs61508494	0.96[EUR][1000 genomes]
rs6573005	0.97[EUR][1000 genomes]
rs6573006	0.97[EUR][1000 genomes]
rs6573007	0.91[EUR][1000 genomes]
rs66476033	0.91[ASN][1000 genomes]
rs66531545	0.94[ASN][1000 genomes]
rs66782529	0.98[ASN][1000 genomes]
rs66842809	0.91[ASN][1000 genomes]
rs66871576	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67092614	0.91[ASN][1000 genomes]
rs67098772	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67215571	0.91[ASN][1000 genomes]
rs67395212	0.96[ASN][1000 genomes]
rs67588230	0.91[ASN][1000 genomes]
rs67756714	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67805055	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67958555	0.91[ASN][1000 genomes]
rs68083077	0.84[ASN][1000 genomes]
rs7140872	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7142704	0.95[EUR][1000 genomes]
rs7147106	0.84[EUR][1000 genomes]
rs7159808	0.91[EUR][1000 genomes]
rs7160110	0.97[EUR][1000 genomes]
rs7160523	0.91[EUR][1000 genomes]
rs72718804	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7493394	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8004787	0.91[EUR][1000 genomes]
rs8007614	0.90[EUR][1000 genomes]
rs8007620	0.90[EUR][1000 genomes]
rs8007944	0.89[EUR][1000 genomes]
rs8009670	0.90[EUR][1000 genomes]
rs8011834	0.97[EUR][1000 genomes]
rs8013027	0.97[EUR][1000 genomes]
rs8018110	0.87[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1047556	RP11-665C16.6	cis	Muscle Skeletal	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55595400-55606200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:55596200-55603200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
3	chr14:55596600-55606400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:55597000-55613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55597200-55602600	Weak transcription	Brain Angular Gyrus	brain
6	chr14:55597200-55602800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:55597200-55602800	Weak transcription	Brain Substantia Nigra	brain
8	chr14:55597200-55603600	Weak transcription	HUVEC	blood vessel
9	chr14:55597200-55604000	Weak transcription	Aorta	Aorta
10	chr14:55597200-55604200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:55597200-55604600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:55597200-55604800	Weak transcription	GM12878-XiMat	blood
13	chr14:55597200-55605200	Weak transcription	A549	lung
14	chr14:55597200-55606600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:55597200-55607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:55597400-55603600	Weak transcription	Fetal Lung	lung
17	chr14:55597600-55600600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:55597600-55602400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:55597800-55600400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:55597800-55601000	Genic enhancers	Osteobl	bone
21	chr14:55597800-55601200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
22	chr14:55597800-55603600	Weak transcription	Fetal Stomach	stomach
23	chr14:55598000-55602400	Weak transcription	Lung	lung
24	chr14:55598400-55600600	Enhancers	Small Intestine	intestine
25	chr14:55598400-55607600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:55598400-55613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:55598600-55601000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:55598600-55603000	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:55598600-55603600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:55598600-55607800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:55598600-55656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:55598800-55600600	Enhancers	Colon Smooth Muscle	Colon
33	chr14:55598800-55600800	Weak transcription	Esophagus	oesophagus
34	chr14:55598800-55601200	Weak transcription	Thymus	Thymus
35	chr14:55598800-55601200	Enhancers	HSMMtube	muscle
36	chr14:55598800-55602600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:55598800-55602800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:55598800-55602800	Weak transcription	Pancreas	Pancrea
39	chr14:55598800-55603600	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:55598800-55603600	Weak transcription	Placenta	Placenta
41	chr14:55598800-55603600	Weak transcription	Spleen	Spleen
42	chr14:55598800-55605200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:55598800-55605800	Weak transcription	HepG2	liver
44	chr14:55598800-55606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:55598800-55606600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:55598800-55610800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:55598800-55611800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:55598800-55613000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:55599000-55601000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr14:55599000-55601200	Enhancers	Fetal Heart	heart

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