Variant report

Variant	rs2232423
Chromosome Location	chr6:28366151-28366152
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28364273..28366438-chr6:28510597..28512229,2	K562	blood:
2	chr6:28315597..28319153-chr6:28366055..28369015,3	K562	blood:
3	chr6:28364231..28371937-chr6:28372195..28378158,17	K562	blood:
4	chr6:28365591..28367177-chr6:28449783..28452341,2	K562	blood:
5	chr6:28191542..28193155-chr6:28365970..28368318,2	K562	blood:
6	chr6:28365707..28367245-chr6:28405846..28408516,2	K562	blood:
7	chr6:28109361..28111458-chr6:28362788..28366324,4	K562	blood:
8	chr6:27857864..27860590-chr6:28365932..28368425,2	K562	blood:
9	chr6:28191542..28194803-chr6:28365970..28368645,4	K562	blood:
10	chr6:28109524..28111212-chr6:28366058..28368601,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197153	Chromatin interaction
ENSG00000251877	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000137185	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs13190888	0.84[EUR][1000 genomes]
rs13191038	0.89[EUR][1000 genomes]
rs13191786	0.89[EUR][1000 genomes]
rs13195291	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs13197633	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs13198809	0.96[EUR][1000 genomes]
rs13201308	0.82[EUR][1000 genomes]
rs13201681	0.96[EUR][1000 genomes]
rs13204012	0.89[EUR][1000 genomes]
rs13205211	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs13207345	0.89[EUR][1000 genomes]
rs13208096	0.89[EUR][1000 genomes]
rs13211507	0.83[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13213152	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs13213986	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13214023	1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs13217619	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs13217984	0.82[EUR][1000 genomes]
rs2223287	1.00[YRI][hapmap]
rs2232426	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2232429	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33932084	0.87[EUR][1000 genomes]
rs34218844	0.89[EUR][1000 genomes]
rs34243448	0.89[EUR][1000 genomes]
rs34396849	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34505829	0.82[EUR][1000 genomes]
rs34546986	1.00[EUR][1000 genomes]
rs34661125	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34676049	0.96[EUR][1000 genomes]
rs34691223	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34765154	0.82[EUR][1000 genomes]
rs34832585	0.82[EUR][1000 genomes]
rs34871267	1.00[EUR][1000 genomes]
rs34878803	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34950484	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35001169	0.89[EUR][1000 genomes]
rs35016036	0.93[EUR][1000 genomes]
rs35017208	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35030260	0.91[EUR][1000 genomes]
rs35072899	0.89[EUR][1000 genomes]
rs35098436	0.82[EUR][1000 genomes]
rs35353359	0.96[EUR][1000 genomes]
rs35656932	0.89[EUR][1000 genomes]
rs35744819	0.96[EUR][1000 genomes]
rs35781323	0.82[EUR][1000 genomes]
rs35883476	1.00[EUR][1000 genomes]
rs36092177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947336	0.84[EUR][1000 genomes]
rs55690788	0.96[EUR][1000 genomes]
rs56075693	0.89[EUR][1000 genomes]
rs56189111	0.89[EUR][1000 genomes]
rs67340775	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67381177	0.96[EUR][1000 genomes]
rs67981811	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67998226	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6917449	1.00[YRI][hapmap]
rs72846794	0.82[EUR][1000 genomes]
rs72854513	0.89[EUR][1000 genomes]
rs7767244	1.00[YRI][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2232423	ZFP57	Cis_chr	lymphoblastoid	RTeQTL
rs2232423	BTN3A2	trans	lymphoblastoid	seeQTL
rs2232423	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs2232423	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs2232423	AL022393.7	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28359200-28366200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:28359200-28366600	Weak transcription	Right Ventricle	heart
3	chr6:28359400-28366600	Weak transcription	Psoas Muscle	Psoas
4	chr6:28359400-28366800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:28359600-28366800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:28359800-28366800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:28359800-28366800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:28360800-28366600	Weak transcription	Colonic Mucosa	Colon
9	chr6:28361000-28366600	Weak transcription	Fetal Kidney	kidney
10	chr6:28361000-28366800	Weak transcription	Aorta	Aorta
11	chr6:28361000-28366800	Weak transcription	Placenta	Placenta
12	chr6:28361200-28366200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr6:28361200-28366800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:28361800-28366800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:28362400-28366200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:28362600-28366200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:28363000-28366400	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr6:28363200-28366200	Transcr. at gene 5' and 3'	K562	blood
19	chr6:28363200-28366600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr6:28363200-28366800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:28363800-28366200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr6:28363800-28366400	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr6:28363800-28366600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:28364000-28366200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
25	chr6:28364200-28366400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:28364400-28366200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:28364400-28366200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:28364400-28366200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:28364400-28366200	Genic enhancers	Fetal Intestine Large	intestine
30	chr6:28364400-28366200	Genic enhancers	Fetal Thymus	thymus
31	chr6:28364400-28366200	Enhancers	Pancreas	Pancrea
32	chr6:28364400-28366200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
33	chr6:28364600-28366200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
34	chr6:28364600-28366200	Enhancers	Spleen	Spleen
35	chr6:28364600-28366800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:28364800-28366200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:28364800-28366200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr6:28364800-28366200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr6:28364800-28366200	Genic enhancers	Fetal Lung	lung
40	chr6:28364800-28366200	Strong transcription	A549	lung
41	chr6:28364800-28366400	Genic enhancers	Fetal Stomach	stomach
42	chr6:28365000-28366200	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr6:28365000-28366200	Enhancers	Fetal Heart	heart
44	chr6:28365000-28366400	Genic enhancers	Primary T cells from cord blood	blood
45	chr6:28365000-28366400	Flanking Active TSS	HMEC	breast
46	chr6:28365000-28366600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:28365000-28366800	Weak transcription	Stomach Mucosa	stomach
48	chr6:28365000-28367000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:28365200-28366200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:28365200-28366200	Weak transcription	Placenta Amnion	Placenta Amnion

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