Variant report

Variant	rs56146874
Chromosome Location	chr11:66319173-66319174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66311759..66315749-chr11:66316911..66320057,5	K562	blood:
2	chr11:66318128..66320367-chr11:66325012..66328300,3	K562	blood:
3	chr11:66302009..66305192-chr11:66317056..66320691,3	MCF-7	breast:
4	chr11:66317473..66319701-chr11:66325756..66327731,2	K562	blood:
5	chr11:66311878..66315000-chr11:66316510..66320252,4	MCF-7	breast:
6	chr11:66316673..66319908-chr11:66361942..66364639,3	K562	blood:
7	chr11:66317031..66319242-chr11:66403704..66406964,3	K562	blood:

Variant related genes	Relation type
ENSG00000174165	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000250105	Chromatin interaction
ENSG00000173933	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11227491	1.00[AMR][1000 genomes]
rs17849480	1.00[AMR][1000 genomes]
rs17850564	1.00[AMR][1000 genomes]
rs478807	0.83[AFR][1000 genomes]
rs527550	0.83[AFR][1000 genomes]
rs55955243	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56177555	1.00[AMR][1000 genomes]
rs56194916	1.00[AMR][1000 genomes]
rs56244360	1.00[AMR][1000 genomes]
rs56291132	1.00[AMR][1000 genomes]
rs56380786	1.00[AMR][1000 genomes]
rs56790408	1.00[AMR][1000 genomes]
rs57113976	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57412357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58447882	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58527779	1.00[AMR][1000 genomes]
rs58883837	1.00[AMR][1000 genomes]
rs59057733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59213528	1.00[AMR][1000 genomes]
rs59792175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60315012	1.00[AMR][1000 genomes]
rs61675228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs648491	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66314200-66321400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:66314400-66320400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:66314400-66327000	Weak transcription	Right Atrium	heart
4	chr11:66314800-66326600	Weak transcription	Psoas Muscle	Psoas
5	chr11:66315400-66323600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:66316200-66323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:66316400-66325200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:66316600-66321400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:66316600-66322200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:66316800-66321800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:66316800-66325800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:66317000-66321400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:66317000-66324800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:66318200-66319200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:66318600-66319200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:66318600-66319200	Bivalent Enhancer	HepG2	liver
17	chr11:66318600-66319800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:66318600-66320000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr11:66318600-66320400	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:66318800-66320000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:66319000-66319200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:66319000-66337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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