Variant report

Variant	rs10031034
Chromosome Location	chr4:69186662-69186663
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	POLR2A	chr4:69186616-69186665	HUVEC	blood vessel:	n/a	n/a
2	FAM48A	chr4:69186580-69186761	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:69186134-69188954	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
YTHDC1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10024896	1.00[EUR][1000 genomes]
rs10027564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932381	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940780	1.00[EUR][1000 genomes]
rs11942378	1.00[EUR][1000 genomes]
rs17089253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2056802	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28633232	1.00[EUR][1000 genomes]
rs28758556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28866177	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35883654	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7664735	1.00[EUR][1000 genomes]
rs7684922	1.00[EUR][1000 genomes]
rs9998289	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv461546	chr4:69049643-69223057	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv594506	chr4:69049643-69223057	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv537132	chr4:69149648-69482831	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2757061	chr4:69178920-69631668	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69176200-69203600	Strong transcription	Liver	Liver
2	chr4:69176200-69203600	Strong transcription	HSMM	muscle
3	chr4:69176200-69204000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:69176200-69204200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:69176400-69188800	Strong transcription	GM12878-XiMat	blood
6	chr4:69176400-69203800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:69176400-69204000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:69176400-69204400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:69176400-69204600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:69176600-69190200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:69176600-69198400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:69176600-69203600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:69176600-69204600	Strong transcription	Fetal Thymus	thymus
14	chr4:69176800-69202200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:69176800-69203600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr4:69177200-69203600	Strong transcription	Placenta	Placenta
17	chr4:69177200-69203800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:69177200-69204200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:69177400-69190000	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:69177400-69204000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr4:69177800-69201200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:69177800-69203800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr4:69178000-69190600	Strong transcription	HUVEC	blood vessel
24	chr4:69178000-69203600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr4:69178000-69205000	Strong transcription	Dnd41	blood
26	chr4:69178200-69188000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:69178200-69189600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:69178200-69193200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:69178400-69187600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:69179200-69194200	Weak transcription	Hela-S3	cervix
31	chr4:69179200-69198600	Strong transcription	NHEK	skin
32	chr4:69180600-69194400	Weak transcription	Psoas Muscle	Psoas
33	chr4:69181800-69189000	Strong transcription	Brain Substantia Nigra	brain
34	chr4:69182400-69189600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:69182600-69187400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:69182600-69192000	Weak transcription	Fetal Heart	heart
37	chr4:69182600-69213200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:69182800-69207200	Weak transcription	Small Intestine	intestine
39	chr4:69182800-69209200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:69183000-69187000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:69183000-69187000	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:69183000-69197800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:69183000-69198600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:69183000-69207800	Weak transcription	Esophagus	oesophagus
45	chr4:69183200-69187000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:69183400-69200600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr4:69183600-69204200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:69183600-69204200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:69183800-69187200	Weak transcription	Fetal Brain Male	brain
50	chr4:69183800-69203600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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