Variant report

Variant	rs10916610
Chromosome Location	chr1:224578928-224578929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224577221..224579713-chr1:224600780..224602799,3	K562	blood:
2	chr1:224574203..224575764-chr1:224577770..224579647,2	MCF-7	breast:
3	chr1:224577356..224581875-chr1:224621264..224626529,5	K562	blood:
4	chr1:224558302..224559980-chr1:224578746..224580701,2	K562	blood:
5	chr1:224569517..224571883-chr1:224576104..224578956,2	K562	blood:
6	chr1:224561356..224563352-chr1:224578652..224580931,2	K562	blood:
7	chr1:224572039..224576189-chr1:224576688..224579602,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction
ENSG00000162923	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10799573	0.82[AMR][1000 genomes]
rs10799574	0.82[AMR][1000 genomes]
rs4654036	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6693653	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS 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 miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10916610	CNIH4	cis	Muscle Skeletal	GTEx
rs10916610	CNIH4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
2	chr1:224547000-224593200	Weak transcription	Stomach Mucosa	stomach
3	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:224555800-224581400	Weak transcription	Fetal Heart	heart
5	chr1:224556000-224591000	Weak transcription	Small Intestine	intestine
6	chr1:224563000-224593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:224565000-224581200	Weak transcription	Right Ventricle	heart
8	chr1:224565000-224582600	Weak transcription	Esophagus	oesophagus
9	chr1:224565000-224586200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:224567000-224579600	Weak transcription	Psoas Muscle	Psoas
11	chr1:224567400-224582400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:224568000-224579600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:224571000-224594000	Strong transcription	HMEC	breast
14	chr1:224571200-224599400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:224571800-224593400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:224572000-224580600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:224572000-224594000	Strong transcription	Osteobl	bone
18	chr1:224572000-224617800	Strong transcription	Fetal Thymus	thymus
19	chr1:224572400-224601000	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:224572400-224617600	Strong transcription	Placenta	Placenta
21	chr1:224572600-224582800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:224572600-224593600	Strong transcription	NHDF-Ad	bronchial
23	chr1:224572600-224593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:224572600-224594000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:224572600-224617600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:224572600-224617600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:224572600-224618400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:224572800-224594400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:224573200-224593400	Strong transcription	HUVEC	blood vessel
30	chr1:224573200-224594000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr1:224573200-224594000	Strong transcription	NH-A	brain
32	chr1:224573200-224594600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:224573200-224618400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:224573200-224618400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:224573600-224614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:224573600-224618200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:224573800-224615200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:224574000-224589200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:224574000-224595800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:224574000-224599400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:224574000-224601600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:224574000-224613600	Strong transcription	Adipose Nuclei	Adipose
43	chr1:224574200-224594400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:224574600-224580000	Strong transcription	NHLF	lung
45	chr1:224574600-224613600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:224574800-224579600	Strong transcription	K562	blood
47	chr1:224574800-224579800	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr1:224575000-224580600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:224575000-224589400	Strong transcription	Brain Anterior Caudate	brain
50	chr1:224575000-224589400	Strong transcription	Left Ventricle	heart

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