Variant report

Variant	rs4707378
Chromosome Location	chr6:88305895-88305896
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:88300436..88304356-chr6:88305861..88309850,4	MCF-7	breast:
2	chr6:88299988..88301682-chr6:88305873..88308812,2	K562	blood:
3	chr6:88304887..88306495-chr6:88308043..88310428,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1075665	0.80[EUR][1000 genomes]
rs11970493	0.82[EUR][1000 genomes]
rs12530371	0.91[EUR][1000 genomes]
rs34513746	0.82[EUR][1000 genomes]
rs4354121	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6454634	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6914244	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9294384	0.81[EUR][1000 genomes]
rs9444514	0.80[EUR][1000 genomes]
rs9444516	0.83[EUR][1000 genomes]
rs9444521	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9450735	0.81[EUR][1000 genomes]
rs9450741	0.84[EUR][1000 genomes]
rs9450743	0.83[EUR][1000 genomes]
rs9450749	0.92[EUR][1000 genomes]
rs9450750	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9450751	0.91[EUR][1000 genomes]
rs9450756	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9450760	0.88[EUR][1000 genomes]
rs9450763	0.87[EUR][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	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
2	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
3	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
4	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
5	nsv538354	chr6:88273858-88311606	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4707378	SLC35A1	cis	multi-tissue	Pritchard
rs4707378	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88300400-88320800	Weak transcription	Spleen	Spleen
2	chr6:88300400-88323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:88300600-88315800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:88300600-88320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:88300600-88321800	Weak transcription	Lung	lung
6	chr6:88300600-88323400	Weak transcription	Gastric	stomach
7	chr6:88300600-88391200	Weak transcription	Colonic Mucosa	Colon
8	chr6:88300800-88311600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:88300800-88320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:88300800-88323600	Weak transcription	Aorta	Aorta
11	chr6:88301000-88310000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:88301000-88311600	Weak transcription	Brain Substantia Nigra	brain
13	chr6:88301000-88313800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:88301000-88315600	Weak transcription	NH-A	brain
15	chr6:88301000-88316400	Weak transcription	Pancreas	Pancrea
16	chr6:88301000-88321000	Weak transcription	Brain Angular Gyrus	brain
17	chr6:88301000-88321000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:88301000-88323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:88301000-88330200	Weak transcription	Right Ventricle	heart
20	chr6:88301000-88347200	Weak transcription	Small Intestine	intestine
21	chr6:88301200-88306400	Weak transcription	HSMM	muscle
22	chr6:88301200-88308400	Weak transcription	Fetal Brain Male	brain
23	chr6:88301200-88313000	Weak transcription	NHDF-Ad	bronchial
24	chr6:88301200-88313200	Weak transcription	Hela-S3	cervix
25	chr6:88301200-88314000	Weak transcription	HMEC	breast
26	chr6:88301200-88316200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:88301200-88320800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:88301200-88320800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:88301200-88323400	Weak transcription	Thymus	Thymus
30	chr6:88301200-88385000	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:88301400-88306800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:88301400-88313000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr6:88301400-88320800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:88301400-88321000	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:88301400-88322400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr6:88301400-88338400	Weak transcription	NHLF	lung
37	chr6:88301400-88354400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:88301400-88354600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:88301600-88308400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:88301600-88320800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:88301800-88306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:88301800-88306800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:88301800-88307400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:88301800-88308000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:88301800-88319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:88302000-88308800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:88302000-88347400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr6:88302000-88354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:88302000-88354600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:88302200-88307200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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