Variant report

Variant	rs28421590
Chromosome Location	chr8:103417723-103417724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103411798..103414097-chr8:103416318..103420383,4	MCF-7	breast:
2	chr8:103409780..103414303-chr8:103416833..103419035,4	MCF-7	breast:
3	chr8:103414964..103417747-chr8:103817201..103820988,4	MCF-7	breast:
4	chr8:103415838..103418096-chr8:103597616..103599630,2	K562	blood:
5	chr8:103415838..103418096-chr8:103596950..103599630,3	K562	blood:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10090363	0.81[ASN][1000 genomes]
rs10090707	1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs10091086	1.00[CHB][hapmap]
rs10098587	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10099641	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs10102559	1.00[CHB][hapmap]
rs10103923	1.00[CHB][hapmap]
rs10104291	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10104672	0.81[ASN][1000 genomes]
rs10108510	1.00[CHB][hapmap]
rs10108699	1.00[CHB][hapmap]
rs10112713	1.00[CHB][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs10481100	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10481101	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11774038	0.87[CEU][hapmap]
rs11774772	0.87[CEU][hapmap]
rs11778468	0.87[CEU][hapmap]
rs11780954	0.87[CEU][hapmap]
rs11781662	0.87[CEU][hapmap]
rs12114813	1.00[CHB][hapmap]
rs12707772	1.00[CHB][hapmap]
rs13261195	0.87[CEU][hapmap]
rs13267556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13267660	0.87[CEU][hapmap]
rs13278113	0.86[CEU][hapmap]
rs16869352	0.87[CEU][hapmap]
rs2168689	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs2305832	0.86[CEU][hapmap]
rs28649712	0.81[ASN][1000 genomes]
rs2925778	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2925783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2925784	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2925785	1.00[CHB][hapmap]
rs2925787	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs2925791	1.00[CHB][hapmap]
rs2978424	1.00[CHB][hapmap]
rs2978425	1.00[CHB][hapmap]
rs2978426	1.00[CHB][hapmap]
rs2978432	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2978433	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3018507	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3018535	0.92[AMR][1000 genomes]
rs3018536	1.00[CHB][hapmap]
rs3018537	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3018542	1.00[CHB][hapmap]
rs3018543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34265044	0.94[ASN][1000 genomes]
rs55847308	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56346553	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs58208138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718165	0.87[CEU][hapmap]
rs7840202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs7843178	0.87[CEU][hapmap]
rs9297323	0.81[ASN][1000 genomes]
rs9649999	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103395800-103420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:103395800-103422200	Weak transcription	HSMMtube	muscle
4	chr8:103397400-103420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:103398600-103420800	Weak transcription	Esophagus	oesophagus
6	chr8:103403400-103420000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:103403400-103423000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:103407600-103421000	Weak transcription	Spleen	Spleen
9	chr8:103408400-103421000	Weak transcription	Thymus	Thymus
10	chr8:103408400-103422400	Weak transcription	Small Intestine	intestine
11	chr8:103408800-103422000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:103410000-103420200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:103410600-103422400	Weak transcription	Fetal Kidney	kidney
14	chr8:103410800-103422800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:103411000-103417800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:103411000-103420800	Weak transcription	Fetal Stomach	stomach
17	chr8:103412000-103420800	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:103412800-103423200	Weak transcription	Lung	lung
19	chr8:103413200-103422000	Weak transcription	Fetal Intestine Large	intestine
20	chr8:103413800-103420800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:103414000-103420000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:103414000-103421000	Weak transcription	Gastric	stomach
23	chr8:103414000-103422000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:103414000-103423000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:103414400-103419800	Weak transcription	Right Ventricle	heart
26	chr8:103414600-103419400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:103414600-103421000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:103414600-103422000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:103414800-103418800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:103414800-103419000	Enhancers	HUVEC	blood vessel
31	chr8:103414800-103419200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:103414800-103419200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr8:103415000-103420000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:103415000-103420000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:103415000-103420200	Weak transcription	Fetal Brain Male	brain
36	chr8:103415000-103420600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:103415200-103418000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:103415200-103418400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:103415200-103419000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr8:103415200-103419000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:103415200-103419800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:103415200-103420000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:103415200-103420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:103415400-103418000	Enhancers	Primary B cells from peripheral blood	blood
45	chr8:103415400-103418000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:103415400-103418200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:103415400-103419200	Enhancers	Osteobl	bone
48	chr8:103415400-103420600	Weak transcription	Fetal Brain Female	brain
49	chr8:103415600-103419200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:103415600-103419400	Enhancers	Muscle Satellite Cultured Cells	--

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