Variant report

Variant	rs1114320
Chromosome Location	chr7:96626069-96626070
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:96618838..96621788-chr7:96624479..96627532,3	K562	blood:
2	chr7:96624402..96628038-chr7:96629326..96632472,4	K562	blood:

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

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

rs_ID	r²[population]
rs1114319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1207723	1.00[AFR][1000 genomes]
rs1207727	1.00[AFR][1000 genomes]
rs1207734	1.00[AFR][1000 genomes]
rs1207739	1.00[AFR][1000 genomes]
rs12704907	1.00[ASN][1000 genomes]
rs1880733	1.00[AFR][1000 genomes]
rs2394557	1.00[ASN][1000 genomes]
rs4729325	0.81[AMR][1000 genomes]
rs886583	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs917046	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9641200	0.81[AMR][1000 genomes];0.88[EUR][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	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96625000-96644000	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr7:96625200-96631800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:96625400-96626800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr7:96625600-96626400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:96625800-96626200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:96625800-96626200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr7:96625800-96628200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr7:96626000-96626200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:96626000-96626200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr7:96626000-96626200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr7:96626000-96626200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:96626000-96626200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr7:96626000-96626200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:96626000-96626200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:96626000-96626200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:96626000-96626200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
17	chr7:96626000-96626200	Bivalent Enhancer	Esophagus	oesophagus
18	chr7:96626000-96626200	Bivalent Enhancer	Fetal Heart	heart
19	chr7:96626000-96626200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr7:96626000-96626200	Bivalent Enhancer	Placenta	Placenta
21	chr7:96626000-96626200	Bivalent Enhancer	Left Ventricle	heart
22	chr7:96626000-96626200	Bivalent Enhancer	Ovary	ovary
23	chr7:96626000-96626200	Enhancers	Pancreas	Pancrea
24	chr7:96626000-96626200	Bivalent Enhancer	Psoas Muscle	Psoas
25	chr7:96626000-96626200	Bivalent Enhancer	Right Atrium	heart
26	chr7:96626000-96626200	Bivalent Enhancer	Spleen	Spleen
27	chr7:96626000-96626400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr7:96626000-96626400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr7:96626000-96626400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr7:96626000-96626400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:96626000-96626400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:96626000-96626600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:96626000-96626600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:96626000-96626600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr7:96626000-96626600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr7:96626000-96627200	Bivalent Enhancer	Brain Hippocampus Middle	brain
37	chr7:96626000-96627400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr7:96626000-96633800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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