Variant report

Variant	rs35132024
Chromosome Location	chr1:246853863-246853864
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246853196..246855742-chr1:246886661..246889205,4	MCF-7	breast:
2	chr1:246852892..246854672-chr1:246916760..246919420,2	MCF-7	breast:
3	chr1:246853163..246855096-chr1:246886538..246888986,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143653	Chromatin interaction
ENSG00000228879	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10924806	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12407128	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12734241	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6696793	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	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
4	nsv1007194	chr1:246813090-246855424	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246832400-246856400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:246850600-246862400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:246852800-246854000	Flanking Active TSS	Colonic Mucosa	Colon
4	chr1:246853200-246854000	Active TSS	Brain Anterior Caudate	brain
5	chr1:246853200-246855200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:246853200-246855200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:246853200-246859800	Weak transcription	Brain Substantia Nigra	brain
8	chr1:246853200-246862400	Weak transcription	Spleen	Spleen
9	chr1:246853400-246854000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr1:246853400-246854200	Enhancers	Fetal Muscle Leg	muscle
11	chr1:246853400-246854800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:246853400-246854800	Weak transcription	Fetal Brain Female	brain
13	chr1:246853400-246855000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:246853400-246855000	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:246853400-246855000	Weak transcription	Right Atrium	heart
16	chr1:246853400-246855000	Weak transcription	NHLF	lung
17	chr1:246853400-246855200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:246853400-246855200	Weak transcription	Adipose Nuclei	Adipose
19	chr1:246853400-246855200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:246853400-246855200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:246853400-246855200	Weak transcription	Psoas Muscle	Psoas
22	chr1:246853400-246859600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:246853600-246854000	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:246853600-246854000	Enhancers	Placenta	Placenta
25	chr1:246853600-246854000	Enhancers	Pancreas	Pancrea
26	chr1:246853600-246855000	Weak transcription	Fetal Brain Male	brain
27	chr1:246853600-246855000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:246853600-246855400	Weak transcription	Brain Angular Gyrus	brain
29	chr1:246853600-246855400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:246853600-246859000	Weak transcription	NHDF-Ad	bronchial
31	chr1:246853800-246854000	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:246853800-246854000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:246853800-246855000	Weak transcription	Brain Inferior Temporal Lobe	brain

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