Variant report

Variant	rs4711213
Chromosome Location	chr6:30292336-30292337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:30291238-30295611	SK-N-SH	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30292292-30292342	SAEC	small airway:	n/a
2	chr6:30292298-30292348	GM12892	blood:	n/a
3	chr6:30292298-30292348	Hela-S3	cervix:	n/a
4	chr6:30292298-30292348	HCF	heart:	n/a
5	chr6:30292292-30292342	HL-60	blood:	n/a
6	chr6:30292292-30292342	AG09319	gingival:	n/a
7	chr6:30292298-30292348	H1-hESC	embryonic stem cell:	embryo
8	chr6:30292298-30292348	SKMC	muscle:	n/a
9	chr6:30292298-30292348	NH-A	brain:	n/a
10	chr6:30292292-30292342	HAEpiC	amniotic membrane:	n/a
11	chr6:30292298-30292348	GM12891	blood:	n/a
12	chr6:30292292-30292342	HNPCEpiC	eye:	n/a
13	chr6:30292298-30292348	HRE	kidney:	n/a
14	chr6:30292298-30292348	PrEC	prostate:	n/a
15	chr6:30292292-30292342	MCF-7	breast:	n/a
16	chr6:30292292-30292342	NH-A	brain:	n/a
17	chr6:30292298-30292348	LNCaP	prostate:	n/a
18	chr6:30292292-30292342	BE2_C	brain:	n/a
19	chr6:30292298-30292348	Caco-2	colon:	n/a
20	chr6:30292292-30292342	LNCaP	prostate:	n/a
21	chr6:30292298-30292348	BE2_C	brain:	n/a
22	chr6:30292292-30292342	PrEC	prostate:	n/a
23	chr6:30292292-30292342	H1-hESC	embryonic stem cell:	embryo
24	chr6:30292292-30292342	Hela-S3	cervix:	n/a
25	chr6:30292292-30292342	HCT-116	colon:	n/a
26	chr6:30292298-30292348	HCM	heart:	n/a
27	chr6:30292298-30292348	MCF-7	breast:	n/a
28	chr6:30292292-30292342	GM06990	blood:	n/a
29	chr6:30292298-30292348	HL-60	blood:	n/a
30	chr6:30292298-30292348	Jurkat	blood:	n/a
31	chr6:30292292-30292342	SK-N-SH	brain:	n/a
32	chr6:30292292-30292342	HRE	kidney:	n/a
33	chr6:30292298-30292348	HEEpiC	esophagus:	n/a
34	chr6:30292292-30292342	ProgFib	skin:	n/a
35	chr6:30292298-30292348	ECC-1	luminal epithelium:	n/a
36	chr6:30292292-30292342	NHDF-neo	bronchial:	n/a
37	chr6:30292292-30292342	CMK	blood:	n/a
38	chr6:30292292-30292342	HEK293	kidney:	embryo
39	chr6:30292292-30292342	SKMC	muscle:	n/a
40	chr6:30292292-30292342	T-47D	breast:	n/a
41	chr6:30292298-30292348	AG10803	skin:	n/a
42	chr6:30292292-30292342	HMEC	breast:	n/a
43	chr6:30292298-30292348	HAEpiC	amniotic membrane:	n/a
44	chr6:30292298-30292348	MCF10A-Er-Src	breast:	n/a
45	chr6:30292292-30292342	AG04449	skin:	fetal
46	chr6:30292298-30292348	U87	brain:	n/a
47	chr6:30292292-30292342	HRCEpiC	kidney:	n/a
48	chr6:30292292-30292342	Jurkat	blood:	n/a
49	chr6:30292292-30292342	A549	lung:	n/a
50	chr6:30292298-30292348	CMK	blood:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30238145..30240956-chr6:30290362..30292756,2	MCF-7	breast:
2	chr6:30206000..30206565-chr6:30291761..30292742,2	K562	blood:

No data

Variant related genes	Relation type
TRIM39	TF binding region
TRIM39	CpG island
ENSG00000236475	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1075105	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12055553	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192505	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1264617	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1264618	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1264619	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2187979	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2428506	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2428507	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2516696	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2516708	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2516715	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2523740	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs261947	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844759	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844760	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844762	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2844764	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2844766	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6900042	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906180	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912771	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913293	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924282	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6924453	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931387	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9295842	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357097	0.92[EUR][1000 genomes]
rs9357098	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9368635	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380167	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380172	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4711213	TRIM26	Cis_1M	lymphoblastoid	RTeQTL
rs4711213	HCG18	cis	normal skin	skin_eQTL
rs4711213	LOC401245	cis	multi-tissue	Pritchard
rs4711213	HCG18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30257600-30292800	Weak transcription	Fetal Kidney	kidney
2	chr6:30262600-30292400	Weak transcription	Pancreas	Pancrea
3	chr6:30263000-30293000	Weak transcription	Brain Substantia Nigra	brain
4	chr6:30270600-30292600	Weak transcription	Esophagus	oesophagus
5	chr6:30271000-30292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:30271000-30292800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:30274600-30292600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:30275400-30293400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:30278200-30292400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:30280400-30292800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:30281800-30292600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:30282000-30292400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:30282200-30292400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:30282200-30292400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:30282200-30292600	Weak transcription	Right Ventricle	heart
16	chr6:30282200-30292800	Weak transcription	Brain Anterior Caudate	brain
17	chr6:30282200-30292800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:30282200-30292800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:30282600-30292400	Weak transcription	Psoas Muscle	Psoas
20	chr6:30284200-30292400	Weak transcription	Colonic Mucosa	Colon
21	chr6:30284400-30293000	Weak transcription	Aorta	Aorta
22	chr6:30284600-30292400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:30284600-30292800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:30284600-30292800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:30285200-30292800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:30285200-30293000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:30285200-30293000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr6:30285400-30292800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:30286000-30292800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:30286800-30292400	Weak transcription	Lung	lung
31	chr6:30287200-30292400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:30287200-30292400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:30287200-30292600	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:30287400-30292400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr6:30287600-30292400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:30287600-30292800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:30288200-30292800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:30288200-30292800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr6:30288400-30292800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr6:30288600-30292400	Weak transcription	Right Atrium	heart
41	chr6:30289600-30292400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:30289600-30292800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:30289600-30292800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:30289800-30292400	Enhancers	Hela-S3	cervix
45	chr6:30290400-30292400	Weak transcription	Adipose Nuclei	Adipose
46	chr6:30290400-30292600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:30290400-30292800	Enhancers	Colon Smooth Muscle	Colon
48	chr6:30290400-30293200	Transcr. at gene 5' and 3'	K562	blood
49	chr6:30290600-30292400	Weak transcription	Placenta	Placenta
50	chr6:30290600-30292400	Weak transcription	Gastric	stomach

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