Variant report

Variant	rs1490690
Chromosome Location	chr10:98860619-98860620
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	CTCF	chr10:98860557-98860657	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr10:98860596-98860623	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98858093..98860956-chr10:98957219..98958927,2	K562	blood:

Variant related genes	Relation type
ENSG00000234855	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1490689	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1490691	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2636776	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2636796	0.87[ASN][1000 genomes]
rs2636813	0.83[EUR][1000 genomes]
rs2636817	0.83[EUR][1000 genomes]
rs2784938	0.82[EUR][1000 genomes]
rs2817689	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2817690	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2817691	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2817693	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2817694	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2817703	0.83[EUR][1000 genomes]
rs902473	0.83[EUR][1000 genomes]
rs902474	0.83[EUR][1000 genomes]
rs902475	0.87[EUR][1000 genomes]
rs931451	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	53 gene(s)	inside rSNPs	diseases
2	nsv1052931	chr10:98676192-98862301	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758236	chr10:98789963-98962472	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759777	chr10:98789963-98962472	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1037576	chr10:98791099-98873649	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1039568	chr10:98800844-98868329	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1040262	chr10:98805336-98872134	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv895913	chr10:98854410-98884402	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98841200-98869200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:98857000-98862400	Weak transcription	Right Atrium	heart
3	chr10:98857000-98862600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:98857000-98869200	Weak transcription	Thymus	Thymus
5	chr10:98857200-98862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:98857200-98869000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:98857400-98863200	Weak transcription	Brain Anterior Caudate	brain
8	chr10:98858200-98861200	Weak transcription	Left Ventricle	heart
9	chr10:98858600-98860800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:98858600-98862200	Weak transcription	Brain Germinal Matrix	brain
11	chr10:98858800-98861400	Weak transcription	Right Ventricle	heart
12	chr10:98858800-98867000	Strong transcription	Fetal Thymus	thymus
13	chr10:98859000-98862200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:98859400-98860800	Weak transcription	Fetal Heart	heart
15	chr10:98859800-98861200	Enhancers	Fetal Brain Male	brain
16	chr10:98860400-98861600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:98860400-98861800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr10:98860400-98861800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:98860600-98861200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr10:98860600-98861200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr10:98860600-98861600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr10:98860600-98861600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr10:98860600-98861600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr10:98860600-98861600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:98860600-98861600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:98860600-98864000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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