Variant report

Variant	rs734905
Chromosome Location	chr6:36927763-36927764
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	MAZ	chr6:36927646-36928765	IMR90	lung:	n/a	n/a
2	POLR2A	chr6:36927549-36928784	K562	blood:	n/a	n/a
3	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
4	JUN	chr6:36926981-36929129	K562	blood:	n/a	chr6:36928483-36928495 chr6:36928485-36928493 chr6:36928484-36928494 chr6:36928484-36928494

No.	Distal block	Cell Line	Cell type
1	chr6:36920733..36923639-chr6:36925448..36929945,7	K562	blood:
2	chr6:36926514..36929766-chr6:36952495..36955671,4	MCF-7	breast:
3	chr6:36925903..36928788-chr6:36946034..36948612,2	MCF-7	breast:
4	chr6:36926516..36929397-chr6:36985217..36986948,2	K562	blood:
5	chr6:36852067..36855564-chr6:36924677..36929209,4	K562	blood:
6	chr6:36924148..36928087-chr6:36953132..36955395,4	MCF-7	breast:

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1023037	0.89[ASN][1000 genomes]
rs12191672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199301	1.00[JPT][hapmap]
rs17624546	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17624895	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs2177845	0.89[ASN][1000 genomes]
rs2293388	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs2293389	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs3778022	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs3778024	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3778026	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3798477	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3798478	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs4585544	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726819	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs753634	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753635	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755143	1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9357232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380628	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];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	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36917600-36931200	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:36918200-36927800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:36918200-36928400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:36921800-36931200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:36922000-36931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:36922200-36929200	Weak transcription	Spleen	Spleen
7	chr6:36923400-36930600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:36923400-36930600	Weak transcription	GM12878-XiMat	blood
9	chr6:36923400-36931000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:36923400-36931000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:36923800-36927800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:36923800-36928400	Weak transcription	HSMM	muscle
13	chr6:36924000-36927800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:36924000-36929000	Weak transcription	Esophagus	oesophagus
15	chr6:36924200-36928400	Weak transcription	Placenta	Placenta
16	chr6:36924200-36928800	Weak transcription	Brain Anterior Caudate	brain
17	chr6:36924400-36927800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:36924400-36927800	Weak transcription	Fetal Heart	heart
19	chr6:36924400-36928400	Weak transcription	Thymus	Thymus
20	chr6:36924400-36929000	Weak transcription	Right Ventricle	heart
21	chr6:36924400-36929200	Weak transcription	Right Atrium	heart
22	chr6:36924600-36928600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:36924600-36930000	Weak transcription	Primary B cells from cord blood	blood
24	chr6:36924800-36930600	Weak transcription	Primary T cells from cord blood	blood
25	chr6:36925000-36928000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:36925400-36928000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:36925600-36927800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:36926000-36927800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:36926200-36928600	Weak transcription	Pancreas	Pancrea
30	chr6:36926600-36927800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:36926800-36927800	Weak transcription	NH-A	brain
32	chr6:36926800-36928000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr6:36927000-36927800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:36927000-36929400	Enhancers	K562	blood
35	chr6:36927000-36931600	Weak transcription	Lung	lung
36	chr6:36927200-36929200	Weak transcription	Gastric	stomach
37	chr6:36927200-36930400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:36927200-36930400	Enhancers	Fetal Thymus	thymus
39	chr6:36927200-36931000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:36927200-36931600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:36927200-36933400	Enhancers	Stomach Mucosa	stomach
42	chr6:36927400-36928000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:36927400-36928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:36927400-36928000	Enhancers	Stomach Smooth Muscle	stomach
45	chr6:36927400-36928600	Weak transcription	Left Ventricle	heart
46	chr6:36927400-36929200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:36927400-36929400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:36927400-36931000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:36927600-36928600	Enhancers	Hela-S3	cervix
50	chr6:36927600-36929200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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