Variant report

Variant	rs1890923
Chromosome Location	chr10:112397386-112397387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr10:112397259-112397466	SH-SY5Y	brain:	n/a	n/a
2	JUND	chr10:112397380-112397921	H1-hESC	embryonic stem cell:	n/a	n/a
3	RFX5	chr10:112397269-112397927	H1-hESC	embryonic stem cell:	n/a	n/a
4	RFX5	chr10:112397145-112398263	IMR90	lung:	n/a	n/a
5	RCOR1	chr10:112397361-112397556	K562	blood:	n/a	n/a
6	KAP1	chr10:112396901-112397856	U2OS	brain:	n/a	chr10:112396917-112396925
7	KAP1	chr10:112396334-112397819	HEK293	kidney:	n/a	chr10:112396917-112396925
8	CREB1	chr10:112397300-112397619	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:112397294..112401107-chr10:112402533..112405885,7	K562	blood:
2	chr10:112396342..112398390-chr10:112406266..112408100,2	K562	blood:
3	chr10:112392621..112399309-chr10:112402526..112407988,9	K562	blood:

Variant related genes	Relation type
RN7SL686P	TF binding region
ENSG00000223302	Chromatin interaction
ENSG00000203867	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1124236	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11812150	1.00[TSI][hapmap]
rs12098489	1.00[EUR][1000 genomes]
rs1547785	1.00[EUR][1000 genomes]
rs17127719	1.00[EUR][1000 genomes]
rs17127727	1.00[EUR][1000 genomes]
rs17127730	1.00[EUR][1000 genomes]
rs4917586	1.00[EUR][1000 genomes]
rs57223126	1.00[EUR][1000 genomes]
rs6585005	1.00[EUR][1000 genomes]
rs7075052	1.00[EUR][1000 genomes]
rs7094685	1.00[TSI][hapmap]
rs7100718	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447705	chr10:112231005-112441828	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv526452	chr10:112263030-112418778	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv430264	chr10:112277340-112415418	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv508607	chr10:112331531-112415100	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112394400-112398800	Enhancers	Fetal Heart	heart
2	chr10:112394600-112398000	Enhancers	Fetal Muscle Leg	muscle
3	chr10:112395000-112398800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr10:112396000-112398400	Enhancers	Left Ventricle	heart
5	chr10:112396200-112397400	Enhancers	Right Atrium	heart
6	chr10:112396200-112397600	Enhancers	Stomach Smooth Muscle	stomach
7	chr10:112396200-112398000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:112396400-112397600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:112396400-112397600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:112396400-112397600	Enhancers	Colon Smooth Muscle	Colon
11	chr10:112396600-112397400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:112396600-112397400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:112396600-112397400	Enhancers	Fetal Brain Female	brain
14	chr10:112396600-112397600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:112396600-112397600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:112396600-112397600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:112396600-112397600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:112396600-112397600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr10:112396600-112397800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr10:112396600-112397800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:112396600-112397800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:112396600-112397800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr10:112396600-112397800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:112396600-112397800	Enhancers	Rectal Smooth Muscle	rectum
25	chr10:112396600-112398000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr10:112396600-112398000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr10:112396600-112399200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:112396600-112400200	Enhancers	A549	lung
29	chr10:112396800-112397400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr10:112396800-112397400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr10:112396800-112397400	Enhancers	HSMMtube	muscle
32	chr10:112396800-112397600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr10:112396800-112397800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:112396800-112398200	Enhancers	NH-A	brain
35	chr10:112397000-112397400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:112397000-112397600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr10:112397000-112398000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr10:112397000-112406800	Weak transcription	Hela-S3	cervix
39	chr10:112397200-112397400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr10:112397200-112397400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:112397200-112397400	Enhancers	Brain Substantia Nigra	brain
42	chr10:112397200-112398000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr10:112397200-112398200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr10:112397200-112400600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr10:112397200-112400600	Weak transcription	K562	blood
46	chr10:112397200-112402600	Weak transcription	Right Ventricle	heart
47	chr10:112397200-112403000	Weak transcription	Psoas Muscle	Psoas

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