Variant report

Variant	rs326158
Chromosome Location	chr5:7817398-7817399
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7815132..7817938-chr5:7825115..7826911,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11134255	1.00[EUR][1000 genomes]
rs11960468	1.00[EUR][1000 genomes]
rs16879182	1.00[EUR][1000 genomes]
rs16879196	1.00[EUR][1000 genomes]
rs16879215	1.00[EUR][1000 genomes]
rs326155	1.00[ASW][hapmap];1.00[EUR][1000 genomes]
rs326161	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs326163	1.00[EUR][1000 genomes]
rs326165	1.00[EUR][1000 genomes]
rs35209447	1.00[EUR][1000 genomes]
rs6885060	1.00[EUR][1000 genomes]
rs7714729	1.00[EUR][1000 genomes]
rs9313202	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active 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	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1024268	chr5:7707047-7821303	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv461927	chr5:7757812-7854289	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv597004	chr5:7757812-7854289	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7795800-7819800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:7803800-7824800	Weak transcription	Aorta	Aorta
3	chr5:7806000-7823600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:7808400-7827000	Weak transcription	Brain Substantia Nigra	brain
5	chr5:7814800-7817400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:7815000-7817400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:7815200-7817400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:7816000-7817800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:7816000-7819200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:7816000-7819200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:7816400-7819400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:7816400-7820400	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:7816400-7825200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:7816600-7827000	Weak transcription	Ovary	ovary
15	chr5:7816800-7817600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:7816800-7819000	Weak transcription	Brain Anterior Caudate	brain
17	chr5:7816800-7819200	Weak transcription	Fetal Stomach	stomach
18	chr5:7816800-7821600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:7816800-7821600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:7816800-7821800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:7816800-7822600	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:7816800-7827400	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:7816800-7828800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:7817000-7819200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:7817000-7819400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:7817000-7819400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:7817000-7821000	Weak transcription	Brain Angular Gyrus	brain
28	chr5:7817000-7826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:7817000-7828000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:7817200-7817400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:7817200-7818000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:7817200-7818600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:7817200-7818800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:7817200-7818800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:7817200-7821000	Weak transcription	Right Atrium	heart
36	chr5:7817200-7821200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:7817200-7823400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:7817200-7825200	Weak transcription	Pancreas	Pancrea
39	chr5:7817200-7826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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