Variant report

Variant	rs2268995
Chromosome Location	chr6:88185450-88185451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:88109062..88110726-chr6:88183109..88185795,2	MCF-7	breast:
2	chr6:88160565..88163215-chr6:88184162..88187005,2	MCF-7	breast:
3	chr6:88116114..88118722-chr6:88184153..88185782,2	K562	blood:

Variant related genes	Relation type
ENSG00000213204	Chromatin interaction
ENSG00000272514	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	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12524203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524205	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13195393	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16879893	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092649	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2143890	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2246057	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2268996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300898	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2300899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300900	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2300904	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2300907	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2300908	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3778671	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3818057	0.87[ASN][1000 genomes]
rs58785365	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6903332	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6927171	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6928057	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6931177	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7383567	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7761943	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9444509	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9450708	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9450709	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9450711	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9450716	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9450717	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9450719	0.87[ASN][1000 genomes]
rs9450721	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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
rs2268995	SLC35A1	cis	multi-tissue	Pritchard
rs2268995	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88183600-88187400	Weak transcription	Left Ventricle	heart
2	chr6:88183600-88187400	Weak transcription	Ovary	ovary
3	chr6:88183600-88190200	Weak transcription	Spleen	Spleen
4	chr6:88183600-88193000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:88183600-88193200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:88183600-88193200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:88183600-88193200	Weak transcription	Lung	lung
8	chr6:88183600-88193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:88183600-88193600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:88183600-88212800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:88183600-88226000	Weak transcription	Gastric	stomach
12	chr6:88183800-88186000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:88183800-88187000	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:88183800-88187200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:88183800-88187200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:88183800-88187200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:88183800-88187200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:88183800-88187400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr6:88183800-88187400	Weak transcription	Fetal Intestine Large	intestine
20	chr6:88183800-88187400	Weak transcription	Fetal Thymus	thymus
21	chr6:88183800-88187400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:88183800-88187800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:88183800-88188400	Weak transcription	Fetal Stomach	stomach
24	chr6:88183800-88190000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:88183800-88193000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:88183800-88193000	Weak transcription	Esophagus	oesophagus
27	chr6:88183800-88193000	Weak transcription	Fetal Intestine Small	intestine
28	chr6:88183800-88193200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:88183800-88193200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:88183800-88193200	Weak transcription	Placenta	Placenta
31	chr6:88183800-88193600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:88183800-88193800	Weak transcription	Colonic Mucosa	Colon
33	chr6:88183800-88197000	Weak transcription	NH-A	brain
34	chr6:88183800-88204200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr6:88183800-88210800	Weak transcription	Adipose Nuclei	Adipose
36	chr6:88183800-88211000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:88183800-88211000	Weak transcription	Brain Anterior Caudate	brain
38	chr6:88183800-88211000	Weak transcription	Thymus	Thymus
39	chr6:88183800-88211800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:88183800-88212000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:88183800-88212600	Weak transcription	Psoas Muscle	Psoas
42	chr6:88183800-88216400	Weak transcription	K562	blood
43	chr6:88183800-88219800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:88183800-88221000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr6:88183800-88221000	Weak transcription	Fetal Kidney	kidney
46	chr6:88183800-88225400	Weak transcription	Aorta	Aorta
47	chr6:88183800-88227400	Weak transcription	Right Ventricle	heart
48	chr6:88184000-88185600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:88184000-88185800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr6:88184000-88187000	Weak transcription	Primary B cells from cord blood	blood

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