Variant report

Variant	rs13205211
Chromosome Location	chr6:28203056-28203057
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28202355..28207419-chr6:28302691..28306303,4	K562	blood:
2	chr6:28201636..28204164-chr6:28301226..28303340,2	K562	blood:
3	chr6:28201634..28205338-chr6:28303433..28306544,4	K562	blood:
4	chr6:28202226..28208942-chr6:28209296..28217649,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235109	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs13190888	0.95[EUR][1000 genomes]
rs13191786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13195291	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13197574	0.85[EUR][1000 genomes]
rs13197633	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13198809	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13200214	1.00[CEU][hapmap]
rs13201308	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13201681	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13203816	0.85[EUR][1000 genomes]
rs13204012	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13205911	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13207345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13208096	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13211507	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13213152	0.83[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13213986	0.83[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13214023	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13217619	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13217984	0.85[EUR][1000 genomes]
rs202906	0.80[CEU][hapmap]
rs2232423	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs2232426	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs2232429	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs33932084	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34166054	0.85[EUR][1000 genomes]
rs34218844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34243448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34371502	0.85[EUR][1000 genomes]
rs34396849	1.00[EUR][1000 genomes]
rs34505829	0.85[EUR][1000 genomes]
rs34546986	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34588114	0.85[EUR][1000 genomes]
rs34661125	1.00[EUR][1000 genomes]
rs34691223	1.00[EUR][1000 genomes]
rs34765154	0.85[EUR][1000 genomes]
rs34832585	0.85[EUR][1000 genomes]
rs34871267	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34878803	1.00[EUR][1000 genomes]
rs34950484	1.00[EUR][1000 genomes]
rs35001169	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35016036	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35017208	0.93[EUR][1000 genomes]
rs35030260	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35072899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35098436	0.85[EUR][1000 genomes]
rs35345226	0.85[EUR][1000 genomes]
rs35353359	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35656932	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35744819	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35749575	0.85[EUR][1000 genomes]
rs35781323	0.85[EUR][1000 genomes]
rs35883476	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35902873	0.85[EUR][1000 genomes]
rs36092177	0.89[EUR][1000 genomes]
rs55690788	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56075693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56189111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66886492	0.85[EUR][1000 genomes]
rs67297533	0.82[EUR][1000 genomes]
rs67340775	0.98[EUR][1000 genomes]
rs67381177	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67981811	0.89[EUR][1000 genomes]
rs67998226	1.00[EUR][1000 genomes]
rs71559070	0.85[EUR][1000 genomes]
rs71559072	0.85[EUR][1000 genomes]
rs72846780	0.85[EUR][1000 genomes]
rs72846794	0.85[EUR][1000 genomes]
rs72854513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7752448	0.90[CEU][hapmap]
rs7752608	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13205211	ZFP57	Cis_chr	lymphoblastoid	RTeQTL
rs13205211	AL022393.7	cis	Muscle Skeletal	GTEx
rs13205211	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs13205211	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28193600-28213400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:28193800-28204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:28193800-28211800	Weak transcription	Fetal Thymus	thymus
4	chr6:28193800-28218400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:28193800-28218400	Weak transcription	Stomach Mucosa	stomach
6	chr6:28194000-28211000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:28194000-28211800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:28194000-28212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:28194000-28213000	Weak transcription	Thymus	Thymus
10	chr6:28194000-28213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:28194600-28207000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:28194800-28204200	Strong transcription	Left Ventricle	heart
13	chr6:28194800-28205000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:28195000-28203200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:28195000-28203800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:28195200-28204600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:28195400-28204600	Strong transcription	Placenta	Placenta
18	chr6:28196600-28203200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:28196600-28203400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:28196600-28203400	Strong transcription	Fetal Brain Female	brain
21	chr6:28196800-28203400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:28196800-28212400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:28196800-28212400	Weak transcription	Small Intestine	intestine
24	chr6:28196800-28213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:28197000-28212400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:28197600-28203600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:28198800-28212200	Weak transcription	Hela-S3	cervix
28	chr6:28199200-28213200	Weak transcription	Colonic Mucosa	Colon
29	chr6:28199800-28213600	Weak transcription	NHDF-Ad	bronchial
30	chr6:28200400-28212400	Weak transcription	Fetal Intestine Small	intestine
31	chr6:28200400-28212600	Weak transcription	NHEK	skin
32	chr6:28200800-28212400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr6:28200800-28212600	Weak transcription	Fetal Heart	heart
34	chr6:28201000-28203600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:28201000-28206400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:28201000-28211000	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:28201000-28211600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:28201000-28212200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:28201000-28212200	Weak transcription	Brain Anterior Caudate	brain
40	chr6:28201000-28212400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:28201000-28212400	Weak transcription	HMEC	breast
42	chr6:28201000-28212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:28201000-28212800	Weak transcription	Pancreas	Pancrea
44	chr6:28201000-28212800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:28201000-28212800	Weak transcription	Right Ventricle	heart
46	chr6:28201200-28206000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:28201200-28206400	Weak transcription	Ovary	ovary
48	chr6:28201200-28212200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:28201400-28206200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:28201600-28203800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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