Variant report

Variant	rs9444534
Chromosome Location	chr6:88400639-88400640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:88392656..88394739-chr6:88399479..88401208,2	K562	blood:
2	chr6:88397239..88400435-chr6:88400607..88403655,3	K562	blood:
3	chr6:88360758..88363835-chr6:88400530..88404540,3	K562	blood:
4	chr6:88397600..88401322-chr6:88403736..88407504,4	K562	blood:
5	chr6:88399461..88401645-chr6:88409406..88411784,2	MCF-7	breast:
6	chr6:88395462..88397221-chr6:88400154..88401972,2	K562	blood:

Variant related genes	Relation type
ENSG00000135334	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1052623	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1075665	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12530371	0.80[EUR][1000 genomes]
rs4354121	0.80[EUR][1000 genomes]
rs4707385	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4707386	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58305152	0.86[ASN][1000 genomes]
rs6454634	0.81[EUR][1000 genomes]
rs6914244	0.80[EUR][1000 genomes]
rs9294384	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9294385	0.94[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9444521	0.81[EUR][1000 genomes]
rs9444531	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9444536	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9450749	0.81[EUR][1000 genomes]
rs9450750	0.81[EUR][1000 genomes]
rs9450751	0.80[EUR][1000 genomes]
rs9450756	0.81[EUR][1000 genomes]
rs9450760	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9450763	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9450773	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9450775	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9474	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv2758068	chr6:88358988-88441473	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2759454	chr6:88358988-88441473	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9444534	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88320400-88400800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:88363000-88408200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:88385400-88401200	Weak transcription	Fetal Heart	heart
4	chr6:88387600-88407000	Weak transcription	Fetal Kidney	kidney
5	chr6:88388000-88401400	Weak transcription	Placenta	Placenta
6	chr6:88388000-88410400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:88389200-88406800	Weak transcription	Fetal Stomach	stomach
8	chr6:88389600-88401400	Weak transcription	Fetal Brain Female	brain
9	chr6:88390200-88401200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:88390400-88400800	Weak transcription	Pancreas	Pancrea
11	chr6:88390400-88401200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:88390400-88401400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:88390400-88401800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:88390400-88405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:88390400-88410000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:88391000-88405200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:88391200-88400800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:88391400-88400800	Weak transcription	Brain Germinal Matrix	brain
19	chr6:88391400-88400800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:88392000-88401200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:88392200-88405200	Weak transcription	Fetal Brain Male	brain
22	chr6:88392400-88400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:88392400-88401400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:88392400-88407200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:88392400-88407400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:88392400-88407400	Weak transcription	Aorta	Aorta
27	chr6:88392600-88406800	Weak transcription	HSMM	muscle
28	chr6:88392600-88407200	Weak transcription	HMEC	breast
29	chr6:88393000-88401200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:88393000-88401400	Weak transcription	NHEK	skin
31	chr6:88393600-88402600	Weak transcription	Esophagus	oesophagus
32	chr6:88393600-88404000	Weak transcription	HUVEC	blood vessel
33	chr6:88393800-88405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:88394000-88401200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:88394600-88401400	Weak transcription	Primary T cells from cord blood	blood
36	chr6:88394800-88402200	Enhancers	Adipose Nuclei	Adipose
37	chr6:88395000-88407200	Weak transcription	Hela-S3	cervix
38	chr6:88395200-88401400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr6:88395400-88401400	Weak transcription	Brain Angular Gyrus	brain
40	chr6:88395600-88401400	Weak transcription	Fetal Lung	lung
41	chr6:88396200-88401200	Weak transcription	Brain Substantia Nigra	brain
42	chr6:88396200-88401400	Weak transcription	Fetal Intestine Large	intestine
43	chr6:88396200-88401800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:88396400-88405200	Weak transcription	Stomach Mucosa	stomach
45	chr6:88396600-88402200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:88397000-88402400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr6:88397200-88401200	Weak transcription	Right Ventricle	heart
48	chr6:88397600-88400800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:88397600-88407000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:88397800-88401200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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