Variant report

Variant	rs6992950
Chromosome Location	chr8:19272265-19272266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19266166..19268628-chr8:19272265..19273861,2	MCF-7	breast:
2	chr8:19272075..19274991-chr8:19275738..19277539,3	MCF-7	breast:
3	chr8:19271313..19275229-chr8:19613615..19615862,4	MCF-7	breast:
4	chr8:19245390..19247073-chr8:19271565..19273182,2	MCF-7	breast:
5	chr8:19225560..19227761-chr8:19271454..19274357,2	K562	blood:
6	chr8:19271639..19274356-chr8:19296369..19298218,2	MCF-7	breast:
7	chr8:19265111..19268034-chr8:19269778..19273718,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10102696	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10107416	0.82[CHB][hapmap]
rs10481426	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10481427	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10481428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11778175	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11780388	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11782540	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11784873	0.83[CHB][hapmap]
rs11785649	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11786847	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11787230	0.82[CHB][hapmap]
rs12542575	0.83[CHB][hapmap]
rs12543061	0.82[CHB][hapmap]
rs12679671	0.95[ASN][1000 genomes]
rs12679712	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13255946	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17407039	0.98[ASN][1000 genomes]
rs17479099	0.95[ASN][1000 genomes]
rs3802329	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4256608	0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4391454	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4412390	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4433156	0.82[CHB][hapmap]
rs4481612	0.83[CHB][hapmap]
rs4617172	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4633071	0.96[ASN][1000 genomes]
rs4642666	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4921638	0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6990217	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6990357	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6991212	0.95[ASN][1000 genomes]
rs6991231	0.94[ASN][1000 genomes]
rs6999786	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7006702	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7015440	0.95[ASN][1000 genomes]
rs7016259	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7016592	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7821446	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv890622	chr8:19224772-19275354	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv610751	chr8:19226335-19284889	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
14	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv610752	chr8:19254816-19311496	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
16	nsv1022344	chr8:19270143-19324083	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6992950	CSGALNACT1	cis	Thyroid	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19254000-19275000	Weak transcription	Gastric	stomach
2	chr8:19261800-19279600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:19263800-19272600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:19266600-19275200	Weak transcription	Right Ventricle	heart
5	chr8:19266600-19275400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:19266600-19283800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:19266800-19275200	Weak transcription	Spleen	Spleen
8	chr8:19267000-19274800	Weak transcription	Left Ventricle	heart
9	chr8:19267000-19275000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:19267000-19275000	Weak transcription	Aorta	Aorta
11	chr8:19267000-19278400	Weak transcription	Esophagus	oesophagus
12	chr8:19267000-19279200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:19267200-19297000	Weak transcription	Brain Substantia Nigra	brain
14	chr8:19267400-19279400	Weak transcription	Adipose Nuclei	Adipose
15	chr8:19267400-19280800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:19267400-19281200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:19267400-19283600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:19267600-19281000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:19267800-19274800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:19267800-19281800	Weak transcription	Brain Anterior Caudate	brain
21	chr8:19267800-19295600	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:19268000-19279400	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:19268000-19283800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:19269000-19273400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr8:19269000-19276800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:19269600-19273600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:19270000-19273600	Enhancers	Primary T cells from cord blood	blood
28	chr8:19270000-19279600	Strong transcription	Primary B cells from cord blood	blood
29	chr8:19270200-19273200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr8:19270200-19288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:19270400-19272600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:19270400-19274400	Weak transcription	Fetal Stomach	stomach
33	chr8:19270400-19278800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:19270400-19283000	Weak transcription	Brain Angular Gyrus	brain
35	chr8:19270600-19272800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:19270600-19274000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:19270800-19273000	Enhancers	HepG2	liver
38	chr8:19270800-19273200	Enhancers	Hela-S3	cervix
39	chr8:19271000-19274200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr8:19271000-19284200	Weak transcription	Thymus	Thymus
41	chr8:19271200-19272800	Enhancers	Fetal Lung	lung
42	chr8:19271200-19273200	Enhancers	Fetal Kidney	kidney
43	chr8:19271200-19273200	Enhancers	Osteobl	bone
44	chr8:19271200-19276000	Weak transcription	Brain Germinal Matrix	brain
45	chr8:19271400-19273000	Enhancers	NHLF	lung
46	chr8:19271400-19273200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:19271400-19273200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr8:19271400-19278600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:19271600-19273600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:19271600-19274200	Weak transcription	Primary T cells fromperipheralblood	blood

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