Variant report

Variant	rs3857810
Chromosome Location	chr7:100943030-100943031
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100941519..100944089-chr7:100963395..100965508,2	K562	blood:
2	chr7:100941733..100944347-chr7:100950677..100953123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128581	Chromatin interaction
ENSG00000232445	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1112061	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11764766	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11766704	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767513	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12112627	0.87[ASN][1000 genomes]
rs12669565	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1962160	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3807513	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55639710	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56173073	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56263141	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61024387	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483049	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62483508	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62483511	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62483514	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6944029	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6944579	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6946907	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6957570	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964543	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73410794	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9690686	0.83[ASN][1000 genomes]
rs9692131	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv1023393	chr7:100904333-101102046	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv2752135	chr7:100932330-101135565	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2752136	chr7:100932330-101143259	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1017098	chr7:100935631-101117541	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv539042	chr7:100935631-101117541	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv2752137	chr7:100938008-101135398	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100942200-100943600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:100942400-100943400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr7:100942400-100943800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:100942400-100943800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:100942400-100943800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:100942400-100944000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:100942400-100947000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr7:100942600-100943200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
9	chr7:100942600-100943400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:100942600-100943600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:100942600-100943600	Enhancers	Pancreas	Pancrea
12	chr7:100942600-100943800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:100942600-100943800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr7:100942600-100944000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:100942600-100944000	Bivalent Enhancer	Placenta	Placenta
16	chr7:100942800-100943200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr7:100942800-100943200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:100942800-100943200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:100942800-100943200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:100942800-100943200	Bivalent Enhancer	HMEC	breast
21	chr7:100942800-100943400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:100942800-100943400	Bivalent/Poised TSS	HepG2	liver
23	chr7:100942800-100943800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:100942800-100943800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:100942800-100943800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:100942800-100943800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:100942800-100943800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr7:100942800-100943800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:100942800-100943800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:100942800-100944000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr7:100942800-100944200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:100943000-100943200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
33	chr7:100943000-100943200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:100943000-100943200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:100943000-100943200	Bivalent Enhancer	Fetal Brain Male	brain
36	chr7:100943000-100943200	Bivalent Enhancer	Fetal Stomach	stomach
37	chr7:100943000-100943200	Bivalent Enhancer	Fetal Thymus	thymus
38	chr7:100943000-100943400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:100943000-100943400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:100943000-100943400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr7:100943000-100943400	Bivalent/Poised TSS	NHEK	skin
42	chr7:100943000-100943600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:100943000-100943600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:100943000-100943600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:100943000-100943600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:100943000-100943600	Bivalent Enhancer	Liver	Liver
47	chr7:100943000-100943800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:100943000-100943800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr7:100943000-100944200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:100943000-100944400	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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