Variant report

Variant	rs1864397
Chromosome Location	chr10:43522458-43522459
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43522082..43523941-chr10:43632029..43633686,2	MCF-7	breast:
2	chr10:43521500..43522685-chr10:43605254..43606963,53	MCF-7	breast:
3	chr10:43494122..43496846-chr10:43520768..43523139,2	MCF-7	breast:
4	chr10:43474536..43476774-chr10:43520389..43522895,3	MCF-7	breast:
5	chr10:43521557..43522557-chr10:43605823..43606953,34	MCF-7	breast:
6	chr10:43476496..43477680-chr10:43521631..43522494,5	MCF-7	breast:
7	chr10:43520674..43522630-chr10:43627624..43629272,2	MCF-7	breast:
8	chr10:43521470..43522630-chr10:43533126..43534089,18	MCF-7	breast:
9	chr10:43516002..43526594-chr10:43563705..43585824,64	MCF-7	breast:
10	chr10:43521390..43523770-chr10:43846828..43848793,2	MCF-7	breast:
11	chr10:43521554..43522492-chr10:43543717..43544592,2	MCF-7	breast:
12	chr10:43521937..43524113-chr10:43534529..43536882,2	MCF-7	breast:
13	chr10:43521617..43522540-chr10:43581453..43582423,6	MCF-7	breast:
14	chr10:43509037..43511424-chr10:43519957..43522490,2	MCF-7	breast:
15	chr10:43521503..43524600-chr10:43558785..43561738,3	MCF-7	breast:
16	chr10:43520346..43523029-chr10:43587909..43590894,3	MCF-7	breast:
17	chr10:43469610..43472857-chr10:43520371..43524809,5	MCF-7	breast:
18	chr10:43521558..43522630-chr10:43533126..43534073,11	MCF-7	breast:
19	chr10:43521977..43523730-chr10:43523968..43526061,2	MCF-7	breast:
20	chr10:43521915..43522534-chr10:43604245..43605068,2	MCF-7	breast:
21	chr10:43476360..43477929-chr10:43521585..43522547,22	MCF-7	breast:
22	chr10:43520913..43524676-chr10:43563115..43566179,5	MCF-7	breast:
23	chr10:43476360..43477727-chr10:43521597..43522461,10	MCF-7	breast:
24	chr10:43521600..43522503-chr10:43589625..43590206,2	MCF-7	breast:
25	chr10:43481086..43483555-chr10:43520776..43523098,2	MCF-7	breast:
26	chr10:43521853..43522545-chr10:43539851..43540728,3	MCF-7	breast:
27	chr10:43521844..43522463-chr10:43539904..43540728,3	MCF-7	breast:
28	chr10:43522095..43524147-chr10:43592185..43594122,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165731	Chromatin interaction
ENSG00000229630	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12415410	1.00[ASN][1000 genomes]
rs2082106	0.81[AFR][1000 genomes]
rs3097563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3097569	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3123728	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3123729	0.87[EUR][1000 genomes]
rs3123730	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3128731	1.00[CEU][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3128732	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3128735	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3128738	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv466880	chr10:43452436-43616751	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	nsv550695	chr10:43452436-43616751	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	nsv895078	chr10:43467392-43524522	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
9	nsv895080	chr10:43471575-43558757	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1054604	chr10:43499167-43532031	Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43520800-43523400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:43521200-43522800	Enhancers	NHEK	skin
3	chr10:43521400-43522600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr10:43521400-43522600	Enhancers	Liver	Liver
5	chr10:43521400-43522800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
6	chr10:43521400-43523000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:43521400-43523200	Enhancers	Spleen	Spleen
8	chr10:43521600-43522600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr10:43521800-43522600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:43521800-43522600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
11	chr10:43521800-43522600	Enhancers	Esophagus	oesophagus
12	chr10:43521800-43522600	Bivalent Enhancer	Right Ventricle	heart
13	chr10:43522200-43523200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:43522200-43524000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr10:43522400-43522600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:43522400-43522600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr10:43522400-43522600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr10:43522400-43522600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr10:43522400-43522600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:43522400-43523000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr10:43522400-43523200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr10:43522400-43523200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:43522400-43523200	Enhancers	HMEC	breast
24	chr10:43522400-43523400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:43522400-43523600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr10:43522400-43524200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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