Variant report

Variant	rs10485031
Chromosome Location	chr6:37634933-37634934
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr6:37634916-37635879	K562	blood:	n/a	n/a
2	NFIC	chr6:37634910-37635740	SK-N-SH	brain:	n/a	n/a
3	GATA1	chr6:37634126-37636644	K562	blood:	n/a	chr6:37635557-37635569 chr6:37635417-37635426 chr6:37635553-37635574 chr6:37635408-37635425 chr6:37635512-37635520 chr6:37635558-37635567 chr6:37635419-37635429 chr6:37635560-37635570 chr6:37635414-37635430 chr6:37634550-37634561 chr6:37635558-37635568 chr6:37634237-37634247 chr6:37635560-37635567
4	GATA2	chr6:37634826-37635766	K562	blood:	n/a	chr6:37635557-37635569 chr6:37635417-37635426 chr6:37635553-37635574 chr6:37635408-37635425 chr6:37635512-37635520 chr6:37635558-37635567 chr6:37635419-37635429 chr6:37635560-37635570 chr6:37635414-37635430 chr6:37635558-37635568 chr6:37635560-37635567
5	GATA3	chr6:37634798-37635887	SK-N-SH	brain:	n/a	chr6:37635557-37635569 chr6:37635417-37635426 chr6:37635553-37635574 chr6:37635408-37635425 chr6:37635512-37635520 chr6:37635558-37635567 chr6:37635419-37635429 chr6:37635560-37635570 chr6:37635414-37635430 chr6:37635558-37635568 chr6:37635560-37635567

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37633354..37635003-chr6:37637145..37640134,2	K562	blood:

Variant related genes	Relation type
MDGA1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10755699	1.00[CHB][hapmap]
rs1619327	1.00[CHB][hapmap]
rs1738454	1.00[CHB][hapmap]
rs17639655	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1776447	1.00[CHB][hapmap]
rs3846877	1.00[CHB][hapmap]
rs3887743	1.00[CHB][hapmap]
rs4236057	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs61036221	1.00[ASN][1000 genomes]
rs6911875	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6915583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922589	1.00[CHB][hapmap]
rs72847482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847491	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847494	1.00[ASN][1000 genomes]
rs72847500	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415421	1.00[ASN][1000 genomes]
rs804828	1.00[CHB][hapmap]
rs804840	1.00[CHB][hapmap]
rs804841	1.00[CHB][hapmap]
rs9380696	1.00[CHB][hapmap]
rs9470660	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10485031	KIF6	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37626000-37635000	Weak transcription	A549	lung
2	chr6:37629200-37635000	Weak transcription	Aorta	Aorta
3	chr6:37629400-37646000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:37629600-37641000	Weak transcription	Fetal Brain Female	brain
5	chr6:37629600-37659600	Weak transcription	Ovary	ovary
6	chr6:37631600-37635000	Weak transcription	Osteobl	bone
7	chr6:37631800-37635000	Weak transcription	NH-A	brain
8	chr6:37631800-37635000	Weak transcription	NHDF-Ad	bronchial
9	chr6:37631800-37647600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:37633200-37637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:37633400-37639000	Weak transcription	Brain Anterior Caudate	brain
12	chr6:37633600-37635000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:37633600-37635600	Weak transcription	Right Atrium	heart
14	chr6:37633600-37637400	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:37633600-37637400	Weak transcription	Brain Substantia Nigra	brain
16	chr6:37633600-37637400	Weak transcription	Gastric	stomach
17	chr6:37633600-37638000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:37633600-37639600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:37633600-37641400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:37633600-37647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:37633800-37635000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:37633800-37637000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:37633800-37638200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:37634600-37635600	Enhancers	NHLF	lung
25	chr6:37634800-37635800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:37634800-37635800	Enhancers	K562	blood
27	chr6:37634800-37636000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:37634800-37636000	Enhancers	Fetal Brain Male	brain
29	chr6:37634800-37636200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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