Variant report

Variant	rs1868245
Chromosome Location	chr4:87848739-87848740
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87848034..87854001-chr4:87854592..87858265,8	MCF-7	breast:
2	chr4:87846751..87849645-chr4:87881394..87883091,2	K562	blood:
3	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
4	chr4:87847594..87849419-chr4:87893253..87895027,2	MCF-7	breast:
5	chr4:87846783..87849156-chr4:87926665..87928343,2	K562	blood:
6	chr4:87845043..87846652-chr4:87847978..87849519,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10003332	0.80[ASN][1000 genomes]
rs10022960	0.80[ASN][1000 genomes]
rs13119324	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1374936	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1374937	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1584345	1.00[ASN][1000 genomes]
rs2053774	0.81[ASN][1000 genomes]
rs2594276	1.00[ASN][1000 genomes]
rs2705617	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4536897	0.80[ASN][1000 genomes]
rs6853011	0.80[ASN][1000 genomes]
rs895740	0.83[AFR][1000 genomes];0.86[ASN][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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87825600-87849400	Weak transcription	Lung	lung
2	chr4:87825600-87849400	Weak transcription	Spleen	Spleen
3	chr4:87825800-87854800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:87825800-87854800	Weak transcription	Right Ventricle	heart
5	chr4:87825800-87855200	Weak transcription	Fetal Stomach	stomach
6	chr4:87826000-87852400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:87829800-87855000	Weak transcription	Aorta	Aorta
8	chr4:87830200-87849600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:87830200-87855200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:87830400-87849400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:87830400-87854600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:87831000-87855000	Weak transcription	Fetal Lung	lung
13	chr4:87831400-87854400	Weak transcription	Fetal Heart	heart
14	chr4:87831400-87854800	Weak transcription	Right Atrium	heart
15	chr4:87832200-87854800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:87835200-87849000	Weak transcription	Pancreas	Pancrea
17	chr4:87837200-87854400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:87838400-87855000	Weak transcription	Colonic Mucosa	Colon
19	chr4:87839000-87850200	Enhancers	Placenta	Placenta
20	chr4:87840200-87852200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:87840200-87854800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:87840400-87849000	Weak transcription	GM12878-XiMat	blood
23	chr4:87842600-87855400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:87843600-87848800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:87843600-87849200	Weak transcription	Adipose Nuclei	Adipose
26	chr4:87843800-87849200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:87843800-87854600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:87844000-87848800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:87844000-87848800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:87844000-87848800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr4:87844000-87849200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr4:87844000-87849400	Weak transcription	Liver	Liver
33	chr4:87844000-87849400	Weak transcription	Esophagus	oesophagus
34	chr4:87844000-87854600	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:87844000-87854800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:87844000-87854800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:87844000-87854800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:87844000-87855000	Weak transcription	Brain Substantia Nigra	brain
39	chr4:87844000-87855000	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:87844200-87849200	Weak transcription	Ovary	ovary
41	chr4:87844400-87852200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:87845200-87849800	Enhancers	HUVEC	blood vessel
43	chr4:87845400-87849800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:87845400-87849800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:87845400-87850400	Enhancers	HMEC	breast
46	chr4:87845600-87849800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:87845600-87850000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:87845600-87854800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:87845800-87849800	Enhancers	NHLF	lung
50	chr4:87845800-87855200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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