Variant report

Variant	rs1983890
Chromosome Location	chr10:6178614-6178615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6175564..6180792-chr10:6183747..6189034,7	MCF-7	breast:
2	chr10:6171306..6174580-chr10:6176089..6182503,5	MCF-7	breast:
3	chr10:6178289..6180326-chr10:6204239..6205826,2	K562	blood:
4	chr10:6175966..6181179-chr10:6182519..6187998,8	K562	blood:

Variant related genes	Relation type
ENSG00000170525	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11593569	1.00[JPT][hapmap]
rs11598494	0.93[ASW][hapmap];0.87[LWK][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1972409	0.97[EUR][1000 genomes]
rs3763700	0.93[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.98[EUR][1000 genomes]
rs71479758	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	76 gene(s)	inside rSNPs	diseases
3	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
6	nsv894816	chr10:6173416-6190343	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv894817	chr10:6173416-6251252	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1983890	ANKRD16	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6171400-6183200	Weak transcription	Right Atrium	heart
2	chr10:6172200-6182800	Weak transcription	Brain Angular Gyrus	brain
3	chr10:6172400-6181600	Weak transcription	Spleen	Spleen
4	chr10:6172400-6182200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr10:6173000-6181000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:6176200-6179200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:6176200-6179200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr10:6176400-6179400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:6176600-6179000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:6176600-6185000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:6176800-6179400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr10:6176800-6182000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:6177200-6181400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:6177200-6181600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:6177200-6181800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:6177200-6182000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:6177600-6179000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:6177600-6179200	Flanking Active TSS	GM12878-XiMat	blood
19	chr10:6177600-6179600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:6177800-6179400	Enhancers	NHDF-Ad	bronchial
21	chr10:6178000-6178800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:6178000-6179000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:6178000-6179200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:6178000-6179400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:6178000-6179400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:6178000-6179400	Enhancers	NHLF	lung
27	chr10:6178200-6179000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:6178200-6179000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:6178200-6179000	Flanking Active TSS	Osteobl	bone
30	chr10:6178200-6179200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:6178200-6179200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr10:6178200-6179200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:6178200-6179200	Enhancers	Esophagus	oesophagus
34	chr10:6178200-6179400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:6178200-6179400	Enhancers	HMEC	breast
36	chr10:6178200-6182000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr10:6178400-6178800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr10:6178400-6178800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr10:6178400-6178800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:6178400-6178800	Flanking Active TSS	HSMM	muscle
41	chr10:6178400-6178800	Flanking Active TSS	NH-A	brain
42	chr10:6178400-6179000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr10:6178400-6179000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr10:6178400-6179000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr10:6178400-6179000	Flanking Active TSS	NHEK	skin
46	chr10:6178400-6179200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr10:6178400-6179400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr10:6178400-6179400	Enhancers	Adipose Nuclei	Adipose
49	chr10:6178600-6178800	Bivalent Enhancer	Fetal Thymus	thymus
50	chr10:6178600-6178800	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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