Variant report

Variant	rs60686175
Chromosome Location	chr1:209756812-209756813
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	chr1:209756742-209759736	PFSK-1	brain:	n/a	n/a
2	KAP1	chr1:209756799-209757271	HEK293	kidney:	n/a	n/a
3	POLR2A	chr1:209756670-209757536	PFSK-1	brain:	n/a	n/a
4	SIN3AK20	chr1:209756773-209757320	PFSK-1	brain:	n/a	n/a
5	TAF1	chr1:209756811-209757227	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:209756733-209757305	H1-neurons	neurons:	n/a	n/a
7	REST	chr1:209756580-209757588	H1-neurons	neurons:	n/a	n/a
8	SIN3AK20	chr1:209756728-209757187	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr1:209756712-209757350	H1-neurons	neurons:	n/a	n/a
10	MYC	chr1:209756635-209757080	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:209756689-209757369	SK-N-SH	brain:	n/a	n/a
12	FOSL2	chr1:209756579-209757232	SK-N-SH	brain:	n/a	n/a
13	ZNF263	chr1:209756611-209757266	HEK293-T-REx	kidney:	n/a	n/a
14	MAZ	chr1:209756300-209757202	IMR90	lung:	n/a	n/a
15	TAF1	chr1:209756702-209757274	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
CAMK1G	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10489338	0.84[ASN][1000 genomes]
rs11119309	0.84[ASN][1000 genomes]
rs12084657	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17014744	0.82[EUR][1000 genomes]
rs17014768	0.89[EUR][1000 genomes]
rs17014769	0.89[EUR][1000 genomes]
rs17014799	0.83[ASN][1000 genomes]
rs17014808	0.84[ASN][1000 genomes]
rs17014810	0.93[EUR][1000 genomes]
rs17014820	0.93[EUR][1000 genomes]
rs17014822	0.93[EUR][1000 genomes]
rs17014823	0.93[EUR][1000 genomes]
rs17014830	0.92[EUR][1000 genomes]
rs17014836	0.91[EUR][1000 genomes]
rs17388107	0.90[EUR][1000 genomes]
rs2067744	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55688212	0.84[EUR][1000 genomes]
rs55709381	0.93[EUR][1000 genomes]
rs55967608	0.93[EUR][1000 genomes]
rs56025154	0.84[EUR][1000 genomes]
rs56165413	0.92[EUR][1000 genomes]
rs58987909	0.87[EUR][1000 genomes]
rs61819949	0.85[EUR][1000 genomes]
rs61822168	0.87[EUR][1000 genomes]
rs61822169	0.90[EUR][1000 genomes]
rs61822171	0.93[EUR][1000 genomes]
rs61822172	0.93[EUR][1000 genomes]
rs6540543	0.91[EUR][1000 genomes]
rs6663545	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6669549	0.91[EUR][1000 genomes]
rs6698127	0.85[EUR][1000 genomes]
rs742253	0.91[EUR][1000 genomes]
rs7512091	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7516885	0.91[EUR][1000 genomes]
rs7536585	0.89[EUR][1000 genomes]
rs9430000	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209751000-209758600	Weak transcription	HMEC	breast
2	chr1:209756200-209757000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:209756400-209757000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:209756400-209757000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:209756400-209757000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:209756600-209757000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:209756600-209757000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:209756600-209757000	Enhancers	NHLF	lung
9	chr1:209756600-209757400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:209756800-209757000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:209756800-209757000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr1:209756800-209757000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr1:209756800-209757000	Enhancers	Fetal Brain Male	brain
14	chr1:209756800-209757000	Flanking Active TSS	Fetal Lung	lung
15	chr1:209756800-209757000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr1:209756800-209757200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:209756800-209757200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:209756800-209757200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:209756800-209757200	Flanking Active TSS	Fetal Kidney	kidney
20	chr1:209756800-209757200	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr1:209756800-209757400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:209756800-209757600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:209756800-209757800	Flanking Active TSS	Fetal Brain Female	brain
24	chr1:209756800-209758000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:209756800-209758000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:209756800-209759200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:209756800-209759400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:209756800-209759600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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