Variant report

Variant	rs61100297
Chromosome Location	chr15:72599579-72599580
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	REST	chr15:72597881-72600092	H1-neurons	neurons:	n/a	chr15:72599014-72599027 chr15:72598868-72598881
2	POLR2A	chr15:72599335-72599800	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr15:72598334-72599903	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72597786..72600011-chr15:72766508..72768760,2	K562	blood:
2	chr15:72564850..72566745-chr15:72598121..72600222,2	K562	blood:
3	chr15:72599410..72601357-chr15:72604613..72606396,2	MCF-7	breast:
4	chr15:72562781..72564885-chr15:72599473..72602023,2	MCF-7	breast:
5	chr15:72564706..72566745-chr15:72598121..72601390,3	K562	blood:

Variant related genes	Relation type
CELF6	TF binding region
ENSG00000261423	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000137817	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10152588	1.00[EUR][1000 genomes]
rs12102191	1.00[EUR][1000 genomes]
rs12102206	1.00[EUR][1000 genomes]
rs13380343	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16956667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956759	0.81[AMR][1000 genomes]
rs2009365	1.00[EUR][1000 genomes]
rs2162236	1.00[EUR][1000 genomes]
rs28375199	1.00[EUR][1000 genomes]
rs28435418	1.00[EUR][1000 genomes]
rs28471053	0.81[AMR][1000 genomes]
rs28478343	1.00[EUR][1000 genomes]
rs28562796	1.00[EUR][1000 genomes]
rs28626831	1.00[EUR][1000 genomes]
rs28663089	1.00[EUR][1000 genomes]
rs59262103	1.00[EUR][1000 genomes]
rs60790003	1.00[EUR][1000 genomes]
rs6494999	1.00[EUR][1000 genomes]
rs7175677	1.00[EUR][1000 genomes]
rs7182307	1.00[EUR][1000 genomes]
rs73440566	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73440586	0.81[AMR][1000 genomes]
rs8039839	1.00[EUR][1000 genomes]
rs8192417	1.00[EUR][1000 genomes]
rs8192427	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	esv3451604	chr15:72599249-72599831	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72566000-72611400	Weak transcription	Right Ventricle	heart
2	chr15:72567000-72611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:72573200-72603000	Weak transcription	Fetal Intestine Large	intestine
4	chr15:72578000-72611800	Weak transcription	Ovary	ovary
5	chr15:72579600-72602400	Weak transcription	Primary T cells from cord blood	blood
6	chr15:72582000-72608000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:72582000-72611800	Weak transcription	Spleen	Spleen
8	chr15:72583800-72611600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:72590200-72604800	Weak transcription	Aorta	Aorta
10	chr15:72590600-72607600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:72590800-72602000	Weak transcription	Left Ventricle	heart
12	chr15:72595400-72604600	Weak transcription	Lung	lung
13	chr15:72596000-72612400	Weak transcription	Adipose Nuclei	Adipose
14	chr15:72597000-72600400	Enhancers	Fetal Brain Male	brain
15	chr15:72597600-72600400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:72597600-72605800	Weak transcription	Fetal Intestine Small	intestine
17	chr15:72598000-72600000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:72598000-72600000	Enhancers	Brain Angular Gyrus	brain
19	chr15:72598200-72599800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:72598200-72600000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:72598800-72599600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr15:72599000-72599600	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr15:72599000-72599600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr15:72599200-72600000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:72599200-72611400	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:72599200-72611600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:72599400-72599600	Enhancers	Brain Anterior Caudate	brain
28	chr15:72599400-72600200	Enhancers	Fetal Brain Female	brain
29	chr15:72599400-72610800	Weak transcription	Brain Inferior Temporal Lobe	brain

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