Variant report

Variant	rs17720687
Chromosome Location	chr6:28228747-28228748
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	ZNF384	chr6:28228681-28228758	GM12878	blood:	n/a	n/a
2	EBF1	chr6:28228680-28228916	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:28228574..28231688-chr6:28301541..28303929,3	K562	blood:
2	chr6:28217539..28222258-chr6:28227412..28230016,4	MCF-7	breast:
3	chr6:28184440..28186086-chr6:28227732..28230449,2	K562	blood:
4	chr6:28228030..28230750-chr6:28318492..28321168,2	K562	blood:

Variant related genes	Relation type
ZKSCAN4	TF binding region
ENSG00000187626	Chromatin interaction
ENSG00000235109	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1015690	0.82[CEU][hapmap]
rs10484541	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1233710	0.82[CEU][hapmap]
rs1555047	0.82[CEU][hapmap]
rs1556957	0.82[CEU][hapmap]
rs1564442	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1635	0.82[CEU][hapmap]
rs16893731	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs16893801	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs16893821	0.83[AFR][1000 genomes]
rs16893827	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17313059	0.82[CEU][hapmap]
rs17313276	0.85[CEU][hapmap]
rs17314224	0.85[CEU][hapmap]
rs17314865	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs17314991	0.82[CHB][hapmap]
rs17315648	0.85[CEU][hapmap]
rs17315739	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs17316033	0.82[CEU][hapmap]
rs17392982	0.85[CEU][hapmap]
rs17393066	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs17393342	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs17393506	0.85[CEU][hapmap]
rs17767294	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2072319	0.82[CEU][hapmap]
rs2232419	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2232434	0.82[CEU][hapmap]
rs2232438	0.85[CEU][hapmap]
rs2277103	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2299030	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60913498	0.90[ASN][1000 genomes]
rs66487884	0.86[ASN][1000 genomes]
rs73400572	0.81[ASN][1000 genomes]
rs73400575	0.85[ASN][1000 genomes]
rs73400581	0.90[ASN][1000 genomes]
rs73742544	0.85[ASN][1000 genomes]
rs758396	0.85[CEU][hapmap]
rs7750106	0.82[CEU][hapmap]
rs7757215	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7774788	0.82[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28227000-28232000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:28227000-28233800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:28227400-28234400	Weak transcription	HSMMtube	muscle
4	chr6:28227600-28229800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:28227600-28231600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:28227600-28231600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:28227600-28233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:28227600-28233800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:28227600-28233800	Weak transcription	HMEC	breast
10	chr6:28227800-28231600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:28227800-28234400	Weak transcription	Right Atrium	heart
12	chr6:28228200-28229600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:28228200-28229800	Weak transcription	Right Ventricle	heart
14	chr6:28228200-28234600	Weak transcription	Left Ventricle	heart
15	chr6:28228400-28229400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:28228400-28231400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:28228400-28233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:28228400-28234000	Weak transcription	Psoas Muscle	Psoas

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