Variant report

Variant	rs811855
Chromosome Location	chr1:10848656-10848657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10752107..10753101-chr1:10848408..10849120,2	MCF-7	breast:
2	chr1:10753482..10754106-chr1:10848617..10849288,2	MCF-7	breast:
3	chr1:10752106..10752658-chr1:10848551..10849222,2	MCF-7	breast:
4	chr1:10835909..10837640-chr1:10847012..10848890,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130940	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1737618	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2387416	0.90[ASN][1000 genomes]
rs2387417	0.90[ASN][1000 genomes]
rs55926240	0.90[ASN][1000 genomes]
rs58708213	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs800761	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv29966	chr1:10676800-10874152	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870849	chr1:10694125-10894724	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv832314	chr1:10704811-10859919	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv871772	chr1:10832322-10894724	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv870589	chr1:10840905-10901994	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10832600-10853400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10838600-10852400	Enhancers	Fetal Heart	heart
3	chr1:10842600-10851400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:10843400-10849000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:10843400-10849800	Weak transcription	Fetal Intestine Small	intestine
6	chr1:10844000-10850200	Enhancers	Right Ventricle	heart
7	chr1:10844400-10849600	Enhancers	Colon Smooth Muscle	Colon
8	chr1:10844600-10850800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr1:10845000-10851800	Enhancers	Stomach Mucosa	stomach
10	chr1:10845200-10850400	Enhancers	Left Ventricle	heart
11	chr1:10845400-10850400	Enhancers	Psoas Muscle	Psoas
12	chr1:10846200-10849400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:10847000-10848800	Bivalent Enhancer	Brain Hippocampus Middle	brain
14	chr1:10847200-10848800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
15	chr1:10847200-10848800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:10847200-10848800	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:10847200-10849000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr1:10847400-10848800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
19	chr1:10847600-10849200	Enhancers	Esophagus	oesophagus
20	chr1:10847800-10848800	Bivalent Enhancer	Brain Substantia Nigra	brain
21	chr1:10847800-10848800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:10848000-10848800	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr1:10848000-10848800	Bivalent Enhancer	Brain Germinal Matrix	brain
24	chr1:10848000-10849200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr1:10848200-10848800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr1:10848200-10848800	Enhancers	Spleen	Spleen
27	chr1:10848200-10849000	Enhancers	Liver	Liver
28	chr1:10848200-10849000	Enhancers	Pancreas	Pancrea
29	chr1:10848200-10850000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:10848200-10850200	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:10848200-10851400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:10848400-10849000	Bivalent Enhancer	Placenta	Placenta
33	chr1:10848400-10849200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr1:10848400-10849200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr1:10848400-10849400	Enhancers	Colonic Mucosa	Colon
36	chr1:10848600-10848800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:10848600-10848800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr1:10848600-10849200	Enhancers	Lung	lung
39	chr1:10848600-10849200	Enhancers	HMEC	breast
40	chr1:10848600-10849600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:10848600-10849600	Bivalent Enhancer	Fetal Stomach	stomach
42	chr1:10848600-10849600	Enhancers	Right Atrium	heart
43	chr1:10848600-10850000	Weak transcription	Gastric	stomach
44	chr1:10848600-10852200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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