Variant report

Variant	rs10945919
Chromosome Location	chr6:164186677-164186678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164178512..164183327-chr6:164184288..164188276,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1885960	0.89[ASN][1000 genomes]
rs7741716	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7741892	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7745869	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7748991	0.90[ASN][1000 genomes]
rs9458898	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv520292	chr6:164174617-164190919	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Response to TNF antagonist treatment	18615156	GWAS catalog

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164182200-164192000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:164184600-164188400	Enhancers	Primary T cells from cord blood	blood
3	chr6:164185000-164187800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:164185000-164188200	Enhancers	Brain Germinal Matrix	brain
5	chr6:164185600-164186800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:164185600-164186800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:164185600-164186800	Enhancers	Left Ventricle	heart
8	chr6:164185600-164187000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:164185800-164186800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:164185800-164186800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:164185800-164186800	Enhancers	Brain Angular Gyrus	brain
12	chr6:164185800-164186800	Enhancers	K562	blood
13	chr6:164185800-164187400	Weak transcription	Right Ventricle	heart
14	chr6:164186000-164186800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:164186000-164186800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:164186000-164200600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:164186200-164186800	Enhancers	HSMMtube	muscle
18	chr6:164186200-164187200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:164186200-164187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:164186200-164187400	Weak transcription	NHEK	skin
21	chr6:164186200-164203600	Weak transcription	Right Atrium	heart
22	chr6:164186400-164186800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:164186400-164187000	Weak transcription	Psoas Muscle	Psoas
24	chr6:164186400-164187600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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