Variant report

Variant	rs16898499
Chromosome Location	chr5:68400965-68400966
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68400479..68402854-chr5:68409637..68411171,2	MCF-7	breast:
2	chr5:68400690..68402320-chr5:68488616..68490544,2	K562	blood:
3	chr5:68388225..68391847-chr5:68400422..68403677,3	MCF-7	breast:
4	chr5:68400088..68402437-chr5:68472699..68475072,2	K562	blood:
5	chr5:68389331..68393521-chr5:68397846..68403936,9	K562	blood:

Variant related genes	Relation type
ENSG00000145740	Chromatin interaction
ENSG00000134057	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10454824	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940199	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743118	0.86[ASN][1000 genomes]
rs12519270	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12522805	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185437	0.94[ASN][1000 genomes]
rs16898486	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976217	0.80[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs58151499	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58575768	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59734653	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67722222	0.96[ASN][1000 genomes]
rs7718228	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7719198	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7719482	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7733034	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68390600-68405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68390800-68405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:68391000-68401000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:68391000-68401000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:68391000-68402800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:68391000-68403000	Weak transcription	HSMMtube	muscle
7	chr5:68391000-68415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:68391200-68401200	Weak transcription	Right Ventricle	heart
9	chr5:68391200-68402600	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:68391200-68405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:68391200-68405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:68391200-68405600	Weak transcription	Psoas Muscle	Psoas
13	chr5:68391400-68401000	Weak transcription	Fetal Brain Female	brain
14	chr5:68391400-68401200	Weak transcription	Gastric	stomach
15	chr5:68391400-68401400	Weak transcription	Spleen	Spleen
16	chr5:68391400-68401600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:68391400-68402000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:68391400-68402600	Weak transcription	Brain Substantia Nigra	brain
19	chr5:68391400-68415800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:68391400-68428800	Weak transcription	Stomach Mucosa	stomach
21	chr5:68391400-68431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:68392000-68401200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr5:68392000-68402800	Weak transcription	NHLF	lung
24	chr5:68392200-68427000	Weak transcription	Fetal Heart	heart
25	chr5:68393000-68401000	Weak transcription	Brain Anterior Caudate	brain
26	chr5:68394200-68405200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:68395000-68419400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:68395000-68428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:68395200-68403800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:68395200-68405800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:68395400-68402800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:68395400-68413200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr5:68395600-68401200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:68395600-68401200	Weak transcription	Small Intestine	intestine
35	chr5:68395600-68401400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:68395600-68406400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr5:68396200-68406200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:68396400-68401000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:68396400-68401000	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:68396400-68401200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:68396400-68401200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:68396400-68401200	Weak transcription	Esophagus	oesophagus
43	chr5:68396400-68401200	Weak transcription	Lung	lung
44	chr5:68396400-68405600	Weak transcription	Aorta	Aorta
45	chr5:68396600-68401200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:68397400-68406400	Strong transcription	Fetal Intestine Large	intestine
47	chr5:68397400-68425000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:68397400-68426400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:68397600-68425000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:68397800-68401400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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