Variant report

Variant	rs6837422
Chromosome Location	chr4:190863127-190863128
allele	C/G
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	TBL1XR1	chr4:190862903-190863721	K562	blood:	n/a	n/a
2	CTCF	chr4:190862680-190863225	K562	blood:	n/a	n/a
3	EP300	chr4:190862937-190863203	GM12878	blood:	n/a	chr4:190863079-190863092
4	BRCA1	chr4:190862928-190863283	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr4:190862841-190863151	MCF10A-Er-Src	breast:	n/a	n/a
6	TBL1XR1	chr4:190862776-190863737	K562	blood:	n/a	n/a
7	MAFF	chr4:190862898-190863604	K562	blood:	n/a	n/a
8	MXI1	chr4:190861204-190863821	IMR90	lung:	n/a	n/a
9	ZC3H11A	chr4:190862850-190863720	K562	blood:	n/a	n/a
10	GATA1	chr4:190861436-190863250	PBDE	blood:	n/a	n/a
11	MAZ	chr4:190862914-190863241	K562	blood:	n/a	n/a
12	POU2F2	chr4:190863043-190863176	GM12878	blood:	n/a	n/a
13	IRF1	chr4:190862768-190863737	K562	blood:	n/a	n/a
14	WRNIP1	chr4:190863018-190863187	GM12878	blood:	n/a	n/a
15	EP300	chr4:190862782-190863746	K562	blood:	n/a	chr4:190863079-190863092
16	KAP1	chr4:190862899-190863715	K562	blood:	n/a	n/a
17	ESRRA	chr4:190860501-190863245	GM12878	blood:	n/a	chr4:190861741-190861755 chr4:190861736-190861755
18	POLR2A	chr4:190862935-190863244	GM12878	blood:	n/a	n/a
19	MAFK	chr4:190862848-190863719	K562	blood:	n/a	n/a
20	MXI1	chr4:190862857-190863713	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:190860824..190863306-chr5:162931181..162932933,2	MCF-7	breast:
2	chr20:29609593..29613129-chr4:190859723..190863221,5	K562	blood:

Variant related genes	Relation type
ENSG00000245685	TF binding region
ENSG00000038274	Chromatin interaction
ENSG00000149531	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10001956	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11132770	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11132771	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11736363	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11736387	0.91[EUR][1000 genomes]
rs11736960	0.84[EUR][1000 genomes]
rs12646565	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12646667	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12646672	0.89[EUR][1000 genomes]
rs12649488	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12649515	0.89[EUR][1000 genomes]
rs13121836	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13121986	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13133725	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13133958	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13140896	0.84[AFR][1000 genomes]
rs13146111	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13148101	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1961818	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2037947	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2037948	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2078634	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2411530	0.83[EUR][1000 genomes]
rs2411549	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3775989	0.85[EUR][1000 genomes]
rs4145515	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4145516	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4145517	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6553396	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6816856	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6820684	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7657916	0.96[EUR][1000 genomes]
rs7658339	0.95[EUR][1000 genomes]
rs7668489	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7675870	0.87[EUR][1000 genomes]
rs7691161	0.91[EUR][1000 genomes]
rs9992042	0.92[EUR][1000 genomes]
rs9996679	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6837422	AF146191.4	cis	Thyroid	GTEx
rs6837422	AF146191.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:190858600-190865400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr4:190860600-190864200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr4:190860800-190863800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr4:190860800-190863800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr4:190860800-190863800	ZNF genes & repeats	Fetal Brain Male	brain
6	chr4:190860800-190864000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr4:190861000-190863200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:190861000-190863200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr4:190861000-190863200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:190861000-190863200	Active TSS	A549	lung
11	chr4:190861000-190863600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:190861000-190863800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:190861000-190863800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr4:190861200-190863200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:190861200-190863200	Active TSS	Hela-S3	cervix
16	chr4:190861200-190863200	Active TSS	NHDF-Ad	bronchial
17	chr4:190861200-190863400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:190861200-190863400	Active TSS	Right Atrium	heart
19	chr4:190861200-190863800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:190861200-190863800	ZNF genes & repeats	HMEC	breast
21	chr4:190861400-190863200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:190861400-190863200	Active TSS	Ovary	ovary
23	chr4:190861600-190863200	Active TSS	Fetal Intestine Small	intestine
24	chr4:190861600-190863200	Active TSS	Gastric	stomach
25	chr4:190861600-190863400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:190861600-190863400	Active TSS	NHEK	skin
27	chr4:190861600-190863400	Active TSS	NHLF	lung
28	chr4:190861600-190863800	Active TSS	Psoas Muscle	Psoas
29	chr4:190861600-190863800	Active TSS	Right Ventricle	heart
30	chr4:190861600-190864200	Active TSS	Aorta	Aorta
31	chr4:190861600-190864200	Active TSS	GM12878-XiMat	blood
32	chr4:190861800-190863200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:190861800-190863200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:190861800-190863400	Active TSS	K562	blood
35	chr4:190861800-190863800	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr4:190862200-190863200	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr4:190862200-190863200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr4:190862400-190863400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr4:190862400-190863400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr4:190862400-190863600	Active TSS	Brain Germinal Matrix	brain
41	chr4:190862600-190863200	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr4:190862600-190863200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:190862600-190863200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr4:190862600-190863200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:190862600-190863200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr4:190862600-190863200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr4:190862600-190863200	Flanking Active TSS	Fetal Lung	lung
48	chr4:190862600-190863400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:190862600-190863600	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr4:190862600-190863600	Active TSS	Thymus	Thymus

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