Variant report

Variant	rs897190
Chromosome Location	chr8:98945345-98945346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98941165..98944316-chr8:98945321..98948446,3	K562	blood:
2	chr8:98929481..98932017-chr8:98944998..98947169,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10091886	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1020654	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1020655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12548243	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1378123	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1378124	0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1378125	0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1378126	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1454714	0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1840370	0.81[ASN][1000 genomes]
rs1840372	0.97[ASN][1000 genomes]
rs1968721	0.97[ASN][1000 genomes]
rs2444879	0.89[JPT][hapmap]
rs2444902	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512034	0.86[JPT][hapmap]
rs2512035	0.89[JPT][hapmap]
rs2512071	1.00[CHB][hapmap]
rs2513837	0.90[ASW][hapmap];0.93[CHD][hapmap];0.89[YRI][hapmap]
rs2513838	0.86[CHD][hapmap]
rs2513845	0.89[JPT][hapmap];1.00[MEX][hapmap]
rs2513846	0.89[JPT][hapmap]
rs2513847	0.88[JPT][hapmap]
rs2513851	1.00[JPT][hapmap]
rs4298468	0.97[ASN][1000 genomes]
rs4469426	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4512352	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs5012370	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6468603	1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS 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	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer 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 target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98930800-98950000	Weak transcription	Right Ventricle	heart
2	chr8:98938200-98956200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
4	chr8:98940200-98947400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
6	chr8:98942200-98946200	Enhancers	Liver	Liver
7	chr8:98942200-98949200	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:98942400-98945400	Weak transcription	A549	lung
9	chr8:98942400-98956200	Weak transcription	NHLF	lung
10	chr8:98942600-98945400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:98943200-98946200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:98943200-98946600	Genic enhancers	Fetal Muscle Leg	muscle
13	chr8:98943200-98946800	Enhancers	Placenta	Placenta
14	chr8:98943400-98945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:98943600-98945600	Genic enhancers	Placenta Amnion	Placenta Amnion
16	chr8:98943800-98945600	Enhancers	K562	blood
17	chr8:98943800-98945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:98943800-98946600	Enhancers	NHEK	skin
19	chr8:98943800-98946800	Enhancers	Ovary	ovary
20	chr8:98944000-98945400	Enhancers	Brain Anterior Caudate	brain
21	chr8:98944000-98945600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:98944000-98945800	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:98944000-98946200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:98944000-98946400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:98944000-98946400	Enhancers	Brain Substantia Nigra	brain
26	chr8:98944000-98946800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:98944000-98947200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:98944000-98954000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:98944200-98945400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:98944200-98945400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:98944200-98945600	Enhancers	Gastric	stomach
32	chr8:98944200-98946200	Enhancers	Adipose Nuclei	Adipose
33	chr8:98944200-98946200	Enhancers	NH-A	brain
34	chr8:98944200-98946600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:98944200-98946600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:98944200-98947200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:98944400-98945600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:98944400-98945600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:98944400-98945600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:98944400-98945600	Enhancers	Spleen	Spleen
41	chr8:98944400-98945600	Enhancers	HUVEC	blood vessel
42	chr8:98944400-98945800	Enhancers	Stomach Mucosa	stomach
43	chr8:98944400-98946000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr8:98944400-98946200	Enhancers	Brain Angular Gyrus	brain
45	chr8:98944400-98946200	Enhancers	Brain Cingulate Gyrus	brain
46	chr8:98944400-98946200	Enhancers	Brain Hippocampus Middle	brain
47	chr8:98944400-98946400	Enhancers	Fetal Stomach	stomach
48	chr8:98944400-98946600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:98944400-98946600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:98944400-98946800	Enhancers	Fetal Lung	lung

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