Variant report

Variant	rs61853995
Chromosome Location	chr1:247025207-247025208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10802451	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10924861	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11576429	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12031687	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12048921	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12401831	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12401878	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12403415	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12410563	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28727999	0.80[EUR][1000 genomes]
rs4971286	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55783683	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56070865	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61853988	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9633321	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[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	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
7	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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 miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61853995	AHCTF1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:247002800-247032600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:247003200-247029200	Strong transcription	Fetal Thymus	thymus
10	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:247003400-247044600	Strong transcription	Dnd41	blood
14	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
17	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:247004200-247025400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:247004200-247044400	Strong transcription	Liver	Liver
24	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:247004400-247025400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:247004400-247025600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
28	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:247005200-247025600	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
31	chr1:247005800-247025400	Strong transcription	Primary B cells from cord blood	blood
32	chr1:247005800-247025400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr1:247006000-247029000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:247008800-247027800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:247009600-247031000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:247010000-247041200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:247010600-247025400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:247010600-247025600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:247010600-247029000	Strong transcription	Osteobl	bone
41	chr1:247012000-247025400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:247012000-247025600	Strong transcription	K562	blood
43	chr1:247013000-247032800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:247014000-247030800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:247014800-247030400	Strong transcription	Hela-S3	cervix
46	chr1:247015000-247025800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:247015000-247029000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:247015400-247032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:247017800-247025600	Strong transcription	Fetal Brain Female	brain
50	chr1:247018000-247025600	Strong transcription	HUVEC	blood vessel

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