Variant report

Variant	rs2035936
Chromosome Location	chr3:141298124-141298125
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141296069..141298248-chr3:141594604..141596170,2	K562	blood:

Variant related genes	Relation type
ENSG00000069849	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11711375	0.82[JPT][hapmap]
rs11917587	0.82[JPT][hapmap]
rs1493209	0.82[JPT][hapmap]
rs1493210	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16851441	0.94[JPT][hapmap]
rs16851483	1.00[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863867	0.82[JPT][hapmap]
rs2035935	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2312193	0.83[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2639997	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2640017	1.00[ASW][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295299	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295300	0.86[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs295320	0.82[JPT][hapmap]
rs295321	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs295323	0.82[JPT][hapmap]
rs295324	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34558081	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3732869	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806646	0.82[JPT][hapmap]
rs3806648	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821709	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3821710	0.81[JPT][hapmap]
rs3821712	0.82[JPT][hapmap]
rs4683404	0.82[JPT][hapmap]
rs4683610	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4683612	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58025624	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60654199	0.84[ASN][1000 genomes]
rs6767158	0.81[JPT][hapmap]
rs6785874	0.82[JPT][hapmap]
rs6795168	0.82[JPT][hapmap]
rs6800122	0.82[JPT][hapmap]
rs6808837	0.82[JPT][hapmap]
rs73871847	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7626871	0.82[JPT][hapmap]
rs7627774	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7627807	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7643837	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006237	chr3:141227525-141300722	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1795799	chr3:141284383-141301451	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1794809	chr3:141290177-141304631	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
rs2035936	ZBTB38	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141236400-141301000	Weak transcription	Brain Substantia Nigra	brain
2	chr3:141236400-141306600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:141236600-141299400	Weak transcription	Gastric	stomach
4	chr3:141237000-141299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:141243400-141299400	Weak transcription	Spleen	Spleen
6	chr3:141254800-141299200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:141254800-141299400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:141254800-141299400	Weak transcription	Right Ventricle	heart
9	chr3:141254800-141319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:141255200-141304800	Weak transcription	Ovary	ovary
11	chr3:141255200-141320000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:141255400-141319200	Weak transcription	Aorta	Aorta
13	chr3:141257000-141300200	Weak transcription	Pancreas	Pancrea
14	chr3:141265200-141336200	Weak transcription	Psoas Muscle	Psoas
15	chr3:141271200-141299400	Weak transcription	Brain Angular Gyrus	brain
16	chr3:141272600-141319200	Strong transcription	Dnd41	blood
17	chr3:141275800-141320600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:141276000-141299400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:141276400-141329400	Weak transcription	Small Intestine	intestine
20	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:141277800-141312000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr3:141281800-141329400	Weak transcription	Fetal Brain Male	brain
23	chr3:141284600-141299200	Weak transcription	Fetal Stomach	stomach
24	chr3:141288000-141312400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:141288200-141320000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:141288400-141316400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:141288600-141302800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:141288600-141308400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:141288600-141316400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr3:141288800-141299800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:141289000-141311800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:141289000-141316600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:141289200-141309000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:141289200-141316400	Strong transcription	Fetal Thymus	thymus
35	chr3:141289400-141301600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:141290200-141301600	Strong transcription	NH-A	brain
37	chr3:141290400-141299400	Weak transcription	Brain Anterior Caudate	brain
38	chr3:141291000-141301200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:141291600-141299200	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:141292600-141298600	Weak transcription	Fetal Intestine Large	intestine
41	chr3:141292600-141299400	Weak transcription	Brain Germinal Matrix	brain
42	chr3:141292600-141299400	Weak transcription	Left Ventricle	heart
43	chr3:141292800-141300000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:141293800-141319000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:141294000-141299400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:141294600-141299400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:141294600-141299400	Weak transcription	Fetal Brain Female	brain
48	chr3:141294800-141319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:141295000-141299200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:141295000-141319200	Weak transcription	Esophagus	oesophagus

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