Variant report

Variant	rs324137
Chromosome Location	chr6:44273546-44273547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:44273106-44273584	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr6:44272236-44276010	K562	blood:	n/a	n/a
3	POLR2A	chr6:44273468-44276027	K562	blood:	n/a	n/a
4	POLR2A	chr6:44273346-44275877	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44221494..44225979-chr6:44269650..44274771,6	K562	blood:
2	chr6:44273300..44278087-chr6:44284295..44289273,5	MCF-7	breast:
3	chr6:44214688..44216634-chr6:44271584..44273822,2	K562	blood:
4	chr6:44272651..44274712-chr6:44338316..44340561,2	K562	blood:
5	chr6:44216083..44217678-chr6:44271012..44273836,2	MCF-7	breast:
6	chr6:44063516..44066397-chr6:44271609..44273554,2	K562	blood:

No data

Variant related genes	Relation type
AARS2	TF binding region
ENSG00000096384	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000265700	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12215017	0.92[ASN][1000 genomes]
rs167772	0.92[CEU][hapmap];0.80[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2233437	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs325000	0.86[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs325001	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs325002	0.98[ASN][1000 genomes]
rs325004	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3799962	0.84[CHD][hapmap];0.81[JPT][hapmap]
rs3818685	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.86[EUR][1000 genomes]
rs483536	0.86[JPT][hapmap]
rs498512	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs513688	0.93[CHD][hapmap];0.86[JPT][hapmap]
rs639728	0.93[CHD][hapmap];0.86[JPT][hapmap]
rs651297	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs730775	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs7772949	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
7	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
8	esv1807818	chr6:44266574-44275011	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs324137	TCTE1	cis	parietal	SCAN
rs324137	TCTE1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44265600-44279600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:44266000-44276600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:44266000-44277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:44266000-44280000	Weak transcription	Small Intestine	intestine
5	chr6:44266200-44276400	Weak transcription	Fetal Heart	heart
6	chr6:44266200-44276800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:44266200-44279600	Weak transcription	Right Atrium	heart
8	chr6:44266800-44273600	Strong transcription	Fetal Stomach	stomach
9	chr6:44266800-44276600	Strong transcription	Fetal Intestine Small	intestine
10	chr6:44266800-44279200	Strong transcription	Brain Cingulate Gyrus	brain
11	chr6:44266800-44279800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:44267000-44275400	Weak transcription	Fetal Kidney	kidney
13	chr6:44267000-44276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:44267000-44279600	Strong transcription	Fetal Muscle Leg	muscle
15	chr6:44267000-44279800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:44267000-44279800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr6:44267200-44279400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:44267200-44279600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:44267200-44279600	Strong transcription	Fetal Thymus	thymus
20	chr6:44267200-44279800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:44267200-44279800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:44267400-44275400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:44267400-44275600	Strong transcription	NHLF	lung
24	chr6:44267400-44276400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:44267400-44276600	Strong transcription	NHEK	skin
26	chr6:44267400-44276800	Strong transcription	Fetal Intestine Large	intestine
27	chr6:44267400-44279200	Strong transcription	Liver	Liver
28	chr6:44267400-44279400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:44267400-44279600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:44267400-44279600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:44267400-44280000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:44267400-44280000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr6:44267600-44279200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr6:44267600-44279400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:44267600-44279800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:44267800-44274400	Strong transcription	Brain Substantia Nigra	brain
37	chr6:44267800-44276600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:44267800-44277000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr6:44267800-44279800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:44267800-44279800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr6:44268000-44275200	Strong transcription	Aorta	Aorta
42	chr6:44268000-44275400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:44268000-44275400	Strong transcription	Pancreas	Pancrea
44	chr6:44268000-44275800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:44268000-44275800	Strong transcription	Osteobl	bone
46	chr6:44268000-44276000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:44268000-44276200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:44268000-44276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:44268000-44276600	Strong transcription	Right Ventricle	heart
50	chr6:44268000-44276800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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