Variant report

Variant	rs6915583
Chromosome Location	chr6:37635359-37635360
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	GATA2	chr6:37635165-37635700	SH-SY5Y	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
2	TBL1XR1	chr6:37635213-37635670	K562	blood:	n/a	n/a
3	HMGN3	chr6:37635225-37635660	K562	blood:	n/a	chr6:37635559-37635566
4	JUN	chr6:37634996-37635970	K562	blood:	n/a	n/a
5	TRIM28	chr6:37635193-37635661	K562	blood:	n/a	n/a
6	IRF1	chr6:37635297-37635648	K562	blood:	n/a	n/a
7	GATA1	chr6:37635112-37635746	PBDE	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
8	POLR2A	chr6:37635302-37635675	K562	blood:	n/a	n/a
9	ZC3H11A	chr6:37635266-37635594	K562	blood:	n/a	n/a
10	USF1	chr6:37635318-37635794	K562	blood:	n/a	n/a
11	MYC	chr6:37635306-37635379	K562	blood:	n/a	n/a
12	USF1	chr6:37635280-37635836	SK-N-SH	brain:	n/a	n/a
13	TAL1	chr6:37635149-37635723	K562	blood:	n/a	chr6:37635408-37635426
14	TEAD4	chr6:37634916-37635879	K562	blood:	n/a	n/a
15	GATA3	chr6:37634996-37635880	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
16	STAT5A	chr6:37635148-37635678	K562	blood:	n/a	n/a
17	BCL3	chr6:37635301-37635666	K562	blood:	n/a	chr6:37635418-37635425
18	EP300	chr6:37635135-37635483	SK-N-SH_RA	brain:	n/a	n/a
19	PML	chr6:37635029-37635791	K562	blood:	n/a	n/a
20	CEBPB	chr6:37635044-37635666	K562	blood:	n/a	n/a
21	ATF1	chr6:37635193-37635650	K562	blood:	n/a	n/a
22	NFIC	chr6:37634910-37635740	SK-N-SH	brain:	n/a	n/a
23	HDAC2	chr6:37635222-37635688	K562	blood:	n/a	chr6:37635559-37635568 chr6:37635659-37635678 chr6:37635591-37635599
24	POLR2A	chr6:37635160-37635635	K562	blood:	n/a	n/a
25	FOSL2	chr6:37635030-37635566	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr6:37635048-37635656	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr6:37635037-37635723	A549	lung:	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
28	NFIC	chr6:37635001-37635634	SK-N-SH	brain:	n/a	n/a
29	MAX	chr6:37635332-37635588	K562	blood:	n/a	n/a
30	JUN	chr6:37635231-37635605	K562	blood:	n/a	n/a
31	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
32	TAF1	chr6:37635330-37635535	K562	blood:	n/a	n/a
33	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
34	CEBPB	chr6:37635195-37635405	A549	lung:	n/a	n/a
35	TBL1XR1	chr6:37635250-37635656	K562	blood:	n/a	n/a
36	CREB1	chr6:37635157-37635768	K562	blood:	n/a	n/a
37	MAFK	chr6:37635170-37635460	IMR90	lung:	n/a	n/a
38	CEBPD	chr6:37635093-37635810	K562	blood:	n/a	n/a
39	FOSL1	chr6:37635287-37635657	K562	blood:	n/a	n/a
40	TBP	chr6:37635356-37635447	K562	blood:	n/a	n/a
41	POLR2A	chr6:37635276-37635592	K562	blood:	n/a	n/a
42	MAZ	chr6:37635276-37635651	K562	blood:	n/a	n/a
43	UBTF	chr6:37635284-37635449	K562	blood:	n/a	n/a
44	TCF12	chr6:37635005-37635707	SK-N-SH	brain:	n/a	n/a
45	REST	chr6:37635264-37635674	K562	blood:	n/a	n/a
46	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
47	POLR2A	chr6:37635158-37635561	SK-N-SH	brain:	n/a	n/a
48	TEAD4	chr6:37635078-37635798	K562	blood:	n/a	n/a
49	PBX3	chr6:37635144-37635740	SK-N-SH	brain:	n/a	n/a
50	CUX1	chr6:37635049-37635655	K562	blood:	n/a	n/a

Variant related genes	Relation type
MDGA1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10485031	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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]
rs6922589	1.00[CHB][hapmap]
rs72847482	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847494	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72847500	0.81[AFR][1000 genomes];0.91[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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37629400-37646000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:37629600-37641000	Weak transcription	Fetal Brain Female	brain
3	chr6:37629600-37659600	Weak transcription	Ovary	ovary
4	chr6:37631800-37647600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:37633200-37637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:37633400-37639000	Weak transcription	Brain Anterior Caudate	brain
7	chr6:37633600-37635600	Weak transcription	Right Atrium	heart
8	chr6:37633600-37637400	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:37633600-37637400	Weak transcription	Brain Substantia Nigra	brain
10	chr6:37633600-37637400	Weak transcription	Gastric	stomach
11	chr6:37633600-37638000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:37633600-37639600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:37633600-37641400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:37633600-37647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:37633800-37637000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:37633800-37638200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:37634600-37635600	Enhancers	NHLF	lung
18	chr6:37634800-37635800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:37634800-37635800	Enhancers	K562	blood
20	chr6:37634800-37636000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:37634800-37636000	Enhancers	Fetal Brain Male	brain
22	chr6:37634800-37636200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:37635000-37635400	Enhancers	A549	lung
24	chr6:37635000-37635600	Enhancers	NHDF-Ad	bronchial
25	chr6:37635000-37635800	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:37635000-37635800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:37635000-37635800	Enhancers	NH-A	brain
28	chr6:37635000-37635800	Enhancers	Osteobl	bone
29	chr6:37635000-37636600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:37635200-37635400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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