Variant report

Variant	rs295321
Chromosome Location	chr3:141325322-141325323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141323458..141325878-chr3:141335451..141337403,2	K562	blood:
2	chr3:141240846..141242381-chr3:141324450..141326596,2	MCF-7	breast:
3	chr3:141318833..141320524-chr3:141324671..141327437,2	K562	blood:

Variant related genes	Relation type
ENSG00000249986	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1493210	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16851483	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035935	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035936	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2312193	0.88[ASN][1000 genomes]
rs2639997	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2640017	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs295299	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs295300	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs295324	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34558081	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3732869	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3806648	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821709	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4683610	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4683612	0.90[ASN][1000 genomes]
rs58025624	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60654199	0.84[ASN][1000 genomes]
rs73871847	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7627774	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7627807	0.85[EUR][1000 genomes];0.94[ASN][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs295321	ZBTB38	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141265200-141336200	Weak transcription	Psoas Muscle	Psoas
2	chr3:141276400-141329400	Weak transcription	Small Intestine	intestine
3	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:141281800-141329400	Weak transcription	Fetal Brain Male	brain
5	chr3:141298000-141328400	Weak transcription	Hela-S3	cervix
6	chr3:141298600-141326800	Weak transcription	Fetal Heart	heart
7	chr3:141300200-141328800	Weak transcription	K562	blood
8	chr3:141301600-141327000	Weak transcription	Brain Angular Gyrus	brain
9	chr3:141302000-141326800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:141305200-141329000	Weak transcription	NHLF	lung
11	chr3:141306200-141328800	Weak transcription	Right Ventricle	heart
12	chr3:141307400-141328400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:141310400-141327000	Weak transcription	Fetal Kidney	kidney
14	chr3:141310400-141327200	Weak transcription	HepG2	liver
15	chr3:141313200-141344000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:141313400-141328800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:141315000-141328800	Weak transcription	Colonic Mucosa	Colon
18	chr3:141315200-141328800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:141315800-141326800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:141315800-141328600	Weak transcription	Brain Anterior Caudate	brain
21	chr3:141316200-141326800	Weak transcription	HMEC	breast
22	chr3:141316200-141327400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:141316400-141327000	Weak transcription	Liver	Liver
24	chr3:141318800-141326000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:141319400-141329400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:141319600-141326200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:141319600-141326800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr3:141319600-141327200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:141319600-141327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:141319600-141327400	Weak transcription	Lung	lung
31	chr3:141319600-141329000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:141319600-141329600	Weak transcription	HSMMtube	muscle
33	chr3:141319800-141326600	Weak transcription	HUVEC	blood vessel
34	chr3:141319800-141327000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr3:141319800-141327000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:141320000-141326800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:141320000-141326800	Weak transcription	NH-A	brain
38	chr3:141320200-141326800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:141320200-141328800	Weak transcription	Spleen	Spleen
40	chr3:141320200-141329000	Weak transcription	Pancreas	Pancrea
41	chr3:141320200-141329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:141320400-141326800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:141320400-141327000	Weak transcription	Placenta	Placenta
44	chr3:141320400-141327400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:141320400-141331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:141320400-141333600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr3:141320400-141337200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:141320600-141327000	Weak transcription	Adipose Nuclei	Adipose
49	chr3:141320600-141327400	Weak transcription	Osteobl	bone
50	chr3:141320800-141325600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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