Variant report

Variant	rs73422763
Chromosome Location	chr6:36928244-36928245
allele	C/T
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	GATA3	chr6:36928156-36928832	SK-N-SH	brain:	n/a	chr6:36928483-36928492 chr6:36928463-36928472 chr6:36928464-36928481
2	FOSL2	chr6:36928214-36928724	SK-N-SH	brain:	n/a	chr6:36928483-36928495 chr6:36928485-36928493 chr6:36928484-36928494 chr6:36928484-36928494
3	MAZ	chr6:36928041-36928722	K562	blood:	n/a	n/a
4	TAL1	chr6:36927956-36928783	K562	blood:	n/a	chr6:36928463-36928481
5	MYC	chr6:36928223-36928710	K562	blood:	n/a	n/a
6	TEAD4	chr6:36928141-36928868	K562	blood:	n/a	n/a
7	TBL1XR1	chr6:36928167-36928653	K562	blood:	n/a	n/a
8	FOSL1	chr6:36928230-36928763	K562	blood:	n/a	chr6:36928483-36928495 chr6:36928485-36928493 chr6:36928484-36928494 chr6:36928484-36928494 chr6:36928483-36928494
9	CEBPD	chr6:36927892-36928849	K562	blood:	n/a	n/a
10	GATA3	chr6:36928148-36928970	MCF-7	breast:	n/a	chr6:36928483-36928492 chr6:36928463-36928472 chr6:36928464-36928481
11	MAZ	chr6:36927646-36928765	IMR90	lung:	n/a	n/a
12	GATA3	chr6:36928223-36928755	A549	lung:	n/a	chr6:36928483-36928492 chr6:36928463-36928472 chr6:36928464-36928481
13	POLR2A	chr6:36927549-36928784	K562	blood:	n/a	n/a
14	CEBPD	chr6:36928216-36928755	K562	blood:	n/a	n/a
15	GATA1	chr6:36927734-36928837	PBDE	blood:	n/a	chr6:36928483-36928492 chr6:36928463-36928472 chr6:36928092-36928101 chr6:36928094-36928101 chr6:36928094-36928101 chr6:36928464-36928481 chr6:36928083-36928100 chr6:36928092-36928101 chr6:36928094-36928101
16	NR2F2	chr6:36928234-36928942	K562	blood:	n/a	n/a
17	JUN	chr6:36926981-36929129	K562	blood:	n/a	chr6:36928483-36928495 chr6:36928485-36928493 chr6:36928484-36928494 chr6:36928484-36928494
18	GATA3	chr6:36928064-36928759	A549	lung:	n/a	chr6:36928483-36928492 chr6:36928463-36928472 chr6:36928092-36928101 chr6:36928094-36928101 chr6:36928094-36928101 chr6:36928464-36928481 chr6:36928083-36928100 chr6:36928092-36928101 chr6:36928094-36928101

No.	Distal block	Cell Line	Cell type
1	chr6:36927877..36929590-chr6:36935143..36936751,2	MCF-7	breast:
2	chr6:36920733..36923639-chr6:36925448..36929945,7	K562	blood:
3	chr6:36926514..36929766-chr6:36952495..36955671,4	MCF-7	breast:
4	chr6:36925903..36928788-chr6:36946034..36948612,2	MCF-7	breast:
5	chr6:36926516..36929397-chr6:36985217..36986948,2	K562	blood:
6	chr6:36852067..36855564-chr6:36924677..36929209,4	K562	blood:

Variant related genes	Relation type
PI16	TF binding region
ENSG00000137409	Chromatin interaction
ENSG00000198663	Chromatin interaction
ENSG00000164530	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1626756	1.00[EUR][1000 genomes]
rs34895385	1.00[EUR][1000 genomes]
rs3997729	1.00[EUR][1000 genomes]
rs58181628	1.00[EUR][1000 genomes]
rs58759314	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6910317	1.00[EUR][1000 genomes]
rs73422769	1.00[EUR][1000 genomes]
rs73422776	1.00[EUR][1000 genomes]
rs73422781	1.00[EUR][1000 genomes]
rs7757632	1.00[EUR][1000 genomes]
rs7759063	0.80[AFR][1000 genomes];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	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36917600-36931200	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:36918200-36928400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:36921800-36931200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:36922000-36931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:36922200-36929200	Weak transcription	Spleen	Spleen
6	chr6:36923400-36930600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:36923400-36930600	Weak transcription	GM12878-XiMat	blood
8	chr6:36923400-36931000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:36923400-36931000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:36923800-36928400	Weak transcription	HSMM	muscle
11	chr6:36924000-36929000	Weak transcription	Esophagus	oesophagus
12	chr6:36924200-36928400	Weak transcription	Placenta	Placenta
13	chr6:36924200-36928800	Weak transcription	Brain Anterior Caudate	brain
14	chr6:36924400-36928400	Weak transcription	Thymus	Thymus
15	chr6:36924400-36929000	Weak transcription	Right Ventricle	heart
16	chr6:36924400-36929200	Weak transcription	Right Atrium	heart
17	chr6:36924600-36928600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:36924600-36930000	Weak transcription	Primary B cells from cord blood	blood
19	chr6:36924800-36930600	Weak transcription	Primary T cells from cord blood	blood
20	chr6:36926200-36928600	Weak transcription	Pancreas	Pancrea
21	chr6:36927000-36929400	Enhancers	K562	blood
22	chr6:36927000-36931600	Weak transcription	Lung	lung
23	chr6:36927200-36929200	Weak transcription	Gastric	stomach
24	chr6:36927200-36930400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:36927200-36930400	Enhancers	Fetal Thymus	thymus
26	chr6:36927200-36931000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:36927200-36931600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:36927200-36933400	Enhancers	Stomach Mucosa	stomach
29	chr6:36927400-36928600	Weak transcription	Left Ventricle	heart
30	chr6:36927400-36929200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:36927400-36929400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:36927400-36931000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:36927600-36928600	Enhancers	Hela-S3	cervix
34	chr6:36927600-36929200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr6:36927800-36928400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr6:36927800-36928600	Enhancers	HSMMtube	muscle
37	chr6:36927800-36929000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr6:36927800-36929000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:36927800-36929000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:36927800-36929000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:36927800-36929000	Enhancers	Osteobl	bone
42	chr6:36927800-36929200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:36927800-36929200	Enhancers	NH-A	brain
44	chr6:36927800-36929200	Enhancers	NHEK	skin
45	chr6:36927800-36929400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:36927800-36929400	Enhancers	Duodenum Mucosa	Duodenum
47	chr6:36927800-36929800	Enhancers	Fetal Heart	heart
48	chr6:36927800-36933200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:36928000-36928400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:36928000-36928800	Enhancers	HUVEC	blood vessel

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