Variant report

Variant	rs9444515
Chromosome Location	chr6:88268288-88268289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:88259058..88262189-chr6:88264509..88268423,3	K562	blood:
2	chr6:88257019..88262069-chr6:88262854..88269707,6	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11965607	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12663400	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13213729	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13220363	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35773999	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4330517	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4552702	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4707380	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6911782	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7748693	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756133	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7768566	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772351	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs910267	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9444529	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9450725	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9450727	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9450730	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9450731	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9450756	0.82[CHB][hapmap]
rs9450757	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9450759	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9450765	0.89[EUR][1000 genomes];0.89[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	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	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
3	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
4	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
5	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
rs9444515	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs9444515	SLC35A1	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88217800-88295800	Weak transcription	Fetal Brain Male	brain
2	chr6:88227800-88298800	Weak transcription	Esophagus	oesophagus
3	chr6:88228400-88298400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:88228600-88271400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:88228600-88285200	Weak transcription	Spleen	Spleen
6	chr6:88228800-88269600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:88229400-88271200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:88229600-88289000	Weak transcription	Lung	lung
9	chr6:88230400-88271200	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:88250000-88275200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:88250600-88270800	Weak transcription	Fetal Heart	heart
12	chr6:88250600-88276800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:88250600-88281600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:88250800-88270400	Weak transcription	Pancreas	Pancrea
15	chr6:88251000-88281800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:88251000-88291400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:88251200-88270800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:88251200-88271200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr6:88251200-88275200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr6:88251200-88280000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:88251200-88280600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:88251200-88284800	Weak transcription	Stomach Mucosa	stomach
23	chr6:88253600-88274800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:88254200-88283600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr6:88254800-88272000	Weak transcription	Fetal Brain Female	brain
26	chr6:88255000-88270400	Weak transcription	Ovary	ovary
27	chr6:88255000-88271200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:88255000-88272000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:88255000-88272000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:88255200-88270200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:88255200-88272000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:88256000-88284000	Weak transcription	Psoas Muscle	Psoas
33	chr6:88256200-88297600	Weak transcription	Right Ventricle	heart
34	chr6:88256400-88271000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:88256400-88295800	Weak transcription	Gastric	stomach
36	chr6:88257400-88268600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr6:88257600-88274800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:88258200-88274400	Strong transcription	Liver	Liver
39	chr6:88259200-88274200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:88259600-88279800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr6:88260200-88277800	Weak transcription	NHEK	skin
42	chr6:88260600-88269400	Strong transcription	Fetal Intestine Large	intestine
43	chr6:88260800-88269600	Strong transcription	Fetal Muscle Leg	muscle
44	chr6:88261000-88268800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:88261000-88269400	Strong transcription	Left Ventricle	heart
46	chr6:88261000-88274800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:88261000-88276800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:88261200-88274400	Strong transcription	Dnd41	blood
49	chr6:88261200-88276800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:88261400-88274000	Strong transcription	HSMM	muscle

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