Variant report

Variant	rs58785365
Chromosome Location	chr6:88183043-88183044
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:88180469..88184304-chr6:88409511..88413377,7	K562	blood:
2	chr6:88182819..88184854-chr6:88208059..88210362,2	K562	blood:
3	chr6:88181828..88184241-chr6:88195546..88199503,4	MCF-7	breast:
4	chr6:88181757..88184109-chr6:88228159..88230300,2	MCF-7	breast:
5	chr6:88116849..88119599-chr6:88181543..88183591,3	MCF-7	breast:
6	chr6:87863665..87867000-chr6:88180798..88183159,3	K562	blood:
7	chr6:88181710..88183852-chr6:88298759..88301128,2	K562	blood:
8	chr6:88180469..88184304-chr6:88409409..88413377,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135334	Chromatin interaction
ENSG00000272514	Chromatin interaction
ENSG00000135336	Chromatin interaction
ENSG00000146282	Chromatin interaction
ENSG00000213204	Chromatin interaction
ENSG00000188994	Chromatin interaction
ENSG00000206715	Chromatin interaction
ENSG00000272008	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11962148	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12524203	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12524205	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13195393	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16879893	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2092649	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2143890	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246057	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2268995	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268996	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300898	0.90[ASN][1000 genomes]
rs2300899	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300900	0.90[ASN][1000 genomes]
rs2300904	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300907	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2300908	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3778671	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3818057	0.84[ASN][1000 genomes]
rs6903332	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6927171	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6928057	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6931177	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7383567	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7761943	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9444509	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9450708	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9450709	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9450711	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9450716	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9450717	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9450719	0.84[ASN][1000 genomes]
rs9450721	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018155	chr6:88049729-88272862	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv830722	chr6:88054186-88223625	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1031961	chr6:88110401-88367006	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1031460	chr6:88153079-88410050	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1026482	chr6:88164934-88409728	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1027706	chr6:88168987-88409728	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs58785365	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs58785365	SLC35A1	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88181600-88183400	Active TSS	K562	blood
2	chr6:88181800-88183200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:88181800-88183200	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr6:88181800-88183400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:88181800-88183400	Active TSS	Brain Cingulate Gyrus	brain
6	chr6:88181800-88183400	Active TSS	Brain Hippocampus Middle	brain
7	chr6:88181800-88183600	Active TSS	A549	lung
8	chr6:88181800-88183800	Active TSS	Psoas Muscle	Psoas
9	chr6:88182000-88183200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:88182000-88183200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:88182000-88183200	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr6:88182000-88183200	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr6:88182000-88183200	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr6:88182000-88183200	Active TSS	Liver	Liver
15	chr6:88182000-88183200	Active TSS	Brain Anterior Caudate	brain
16	chr6:88182000-88183200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr6:88182000-88183200	Active TSS	Brain Substantia Nigra	brain
18	chr6:88182000-88183200	Active TSS	Colonic Mucosa	Colon
19	chr6:88182000-88183200	Active TSS	Duodenum Mucosa	Duodenum
20	chr6:88182000-88183200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr6:88182000-88183200	Active TSS	Fetal Brain Female	brain
22	chr6:88182000-88183200	Active TSS	Fetal Muscle Leg	muscle
23	chr6:88182000-88183200	Active TSS	Fetal Thymus	thymus
24	chr6:88182000-88183200	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr6:88182000-88183200	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr6:88182000-88183200	Active TSS	Thymus	Thymus
27	chr6:88182000-88183200	Active TSS	NH-A	brain
28	chr6:88182000-88183400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:88182000-88183400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:88182000-88183400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr6:88182000-88183400	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:88182000-88183400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:88182000-88183400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr6:88182000-88183400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:88182000-88183400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr6:88182000-88183400	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr6:88182000-88183400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:88182000-88183400	Active TSS	Brain Angular Gyrus	brain
39	chr6:88182000-88183400	Active TSS	Colon Smooth Muscle	Colon
40	chr6:88182000-88183400	Active TSS	Fetal Heart	heart
41	chr6:88182000-88183400	Active TSS	Fetal Intestine Small	intestine
42	chr6:88182000-88183400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr6:88182000-88183400	Active TSS	Fetal Lung	lung
44	chr6:88182000-88183400	Active TSS	Fetal Stomach	stomach
45	chr6:88182000-88183400	Active TSS	Pancreas	Pancrea
46	chr6:88182000-88183400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr6:88182000-88183400	Active TSS	Rectal Smooth Muscle	rectum
48	chr6:88182000-88183400	Active TSS	Right Ventricle	heart
49	chr6:88182000-88183400	Active TSS	Stomach Smooth Muscle	stomach
50	chr6:88182000-88183400	Active TSS	GM12878-XiMat	blood

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