Variant report

Variant	rs10957124
Chromosome Location	chr8:61167887-61167888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61167771..61170753-chr8:61173259..61175259,2	K562	blood:
2	chr8:61166416..61168697-chr8:61192571..61194082,2	K562	blood:
3	chr8:61165346..61168497-chr8:61168931..61172613,4	K562	blood:
4	chr8:61163880..61166402-chr8:61167523..61169241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10089297	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10094224	0.91[EUR][1000 genomes]
rs10094326	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10094553	0.92[ASN][1000 genomes]
rs10097613	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10098038	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10101157	0.90[EUR][1000 genomes]
rs10105094	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10105098	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10105158	0.91[EUR][1000 genomes]
rs10109065	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10112099	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10112677	0.91[EUR][1000 genomes]
rs13280906	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13281126	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13282489	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1480340	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1480341	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28643410	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35256935	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35503542	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35524626	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4351453	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4527913	0.91[EUR][1000 genomes]
rs4584176	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56227154	0.90[ASN][1000 genomes]
rs6983247	0.91[EUR][1000 genomes]
rs6991411	0.92[ASN][1000 genomes]
rs6996114	0.85[EUR][1000 genomes]
rs6998008	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7009181	0.92[ASN][1000 genomes]
rs7465560	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7814086	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7815042	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7824986	0.89[EUR][1000 genomes]
rs7832414	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7841458	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9298027	0.92[ASN][1000 genomes]
rs9298028	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9298029	0.92[EUR][1000 genomes]
rs9298031	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9298032	0.91[EUR][1000 genomes]
rs9298033	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9657070	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr8:61158600-61174600	Weak transcription	Fetal Intestine Large	intestine
2	chr8:61158800-61176800	Weak transcription	A549	lung
3	chr8:61162000-61170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:61164000-61171800	Strong transcription	K562	blood
5	chr8:61164200-61186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:61164600-61169400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:61166000-61169000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:61167000-61177400	Weak transcription	Fetal Thymus	thymus
9	chr8:61167000-61180200	Weak transcription	Left Ventricle	heart
10	chr8:61167000-61193200	Weak transcription	Gastric	stomach
11	chr8:61167000-61193200	Weak transcription	Lung	lung
12	chr8:61167000-61193200	Weak transcription	Pancreas	Pancrea
13	chr8:61167200-61174600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:61167400-61168200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:61167600-61168000	Weak transcription	Fetal Stomach	stomach
16	chr8:61167600-61172200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:61167600-61186400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:61167800-61175600	Weak transcription	Fetal Intestine Small	intestine

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