Variant report

Variant	rs73734231
Chromosome Location	chr6:37612164-37612165
allele	A/G
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	POLR2A	chr6:37611619-37612224	K562	blood:	n/a	n/a
2	POLR2A	chr6:37611656-37612184	PFSK-1	brain:	n/a	n/a
3	CBX3	chr6:37611663-37612187	K562	blood:	n/a	n/a
4	POLR2A	chr6:37611507-37612303	PFSK-1	brain:	n/a	n/a
5	EGR1	chr6:37611619-37612171	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37601453..37608472-chr6:37609186..37615415,9	K562	blood:

Variant related genes	Relation type
MDGA1	TF binding region
ENSG00000112139	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1738451	1.00[EUR][1000 genomes]
rs2776914	1.00[EUR][1000 genomes]
rs41462250	1.00[EUR][1000 genomes]
rs55928393	1.00[EUR][1000 genomes]
rs57562221	1.00[EUR][1000 genomes]
rs61541408	1.00[EUR][1000 genomes]
rs931648	1.00[EUR][1000 genomes]
rs9632490	1.00[EUR][1000 genomes]
rs9968949	1.00[EUR][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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37594000-37615400	Weak transcription	Fetal Brain Female	brain
2	chr6:37599200-37615600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:37599200-37621800	Weak transcription	NHLF	lung
4	chr6:37602200-37616600	Weak transcription	Right Atrium	heart
5	chr6:37602800-37616400	Weak transcription	Ovary	ovary
6	chr6:37604200-37614600	Strong transcription	Fetal Stomach	stomach
7	chr6:37606800-37615600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:37609000-37612600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:37609600-37612800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr6:37609800-37612600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr6:37610000-37612200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr6:37610000-37612600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:37610000-37612600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:37610400-37612400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:37610400-37612800	Enhancers	K562	blood
16	chr6:37610600-37612400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:37610600-37612400	Enhancers	Esophagus	oesophagus
18	chr6:37610600-37612600	Enhancers	Spleen	Spleen
19	chr6:37610600-37612800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:37610800-37612400	Enhancers	Primary T cells from cord blood	blood
21	chr6:37610800-37612600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:37610800-37612600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:37610800-37612600	Enhancers	Dnd41	blood
24	chr6:37611200-37612600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:37611400-37612400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr6:37611400-37612400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:37611400-37612400	Enhancers	HUVEC	blood vessel
28	chr6:37611400-37612600	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:37611400-37612600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr6:37611400-37612600	Enhancers	Hela-S3	cervix
31	chr6:37611600-37612200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:37611600-37612200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:37611600-37612200	Enhancers	NHEK	skin
34	chr6:37611600-37612400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:37611600-37612400	Enhancers	Small Intestine	intestine
36	chr6:37611600-37612400	Enhancers	HMEC	breast
37	chr6:37611600-37612600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:37611600-37612600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:37611600-37612600	Enhancers	Right Ventricle	heart
40	chr6:37611800-37612200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:37611800-37612200	Enhancers	GM12878-XiMat	blood
42	chr6:37611800-37612400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:37611800-37612600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:37611800-37612600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr6:37611800-37616000	Weak transcription	Gastric	stomach
46	chr6:37612000-37612200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:37612000-37612200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:37612000-37612200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr6:37612000-37612200	Enhancers	NH-A	brain
50	chr6:37612000-37612400	Enhancers	Sigmoid Colon	Sigmoid Colon

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