Variant report

Variant	rs4439107
Chromosome Location	chr8:124658688-124658689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124654411..124657402-chr8:124657666..124660616,2	K562	blood:
2	chr8:124651607..124653869-chr8:124656583..124659283,2	MCF-7	breast:
3	chr8:124658511..124660585-chr8:124661818..124664986,4	MCF-7	breast:
4	chr8:124651070..124655154-chr8:124655316..124659808,4	MCF-7	breast:
5	chr8:124656144..124657737-chr8:124658420..124660682,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17255623	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs61730397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61910739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518565	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518567	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1844966	chr8:124654332-124660447	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124655000-124660000	Enhancers	Ovary	ovary
2	chr8:124655600-124658800	Enhancers	Right Ventricle	heart
3	chr8:124655800-124659000	Enhancers	Stomach Smooth Muscle	stomach
4	chr8:124656400-124660800	Enhancers	Fetal Heart	heart
5	chr8:124656600-124659800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
6	chr8:124656600-124660400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:124656800-124660400	Weak transcription	Fetal Intestine Large	intestine
8	chr8:124656800-124660400	Weak transcription	A549	lung
9	chr8:124656800-124660600	Weak transcription	HSMMtube	muscle
10	chr8:124656800-124660800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:124656800-124666000	Weak transcription	HSMM	muscle
12	chr8:124656800-124666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:124657000-124658800	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:124657000-124658800	Weak transcription	Fetal Stomach	stomach
15	chr8:124657000-124660400	Weak transcription	Fetal Intestine Small	intestine
16	chr8:124657000-124664200	Weak transcription	Placenta	Placenta
17	chr8:124657000-124665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:124657200-124660400	Weak transcription	NH-A	brain
19	chr8:124657400-124660400	Weak transcription	Osteobl	bone
20	chr8:124657800-124659000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:124657800-124659200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:124658000-124658800	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr8:124658000-124659200	Enhancers	Psoas Muscle	Psoas
24	chr8:124658000-124659400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr8:124658400-124659400	Enhancers	Rectal Smooth Muscle	rectum
26	chr8:124658400-124660400	Weak transcription	Left Ventricle	heart
27	chr8:124658400-124661000	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:124658600-124659200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:124658600-124660400	Weak transcription	Aorta	Aorta
30	chr8:124658600-124660600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:124658600-124660600	Weak transcription	Rectal Mucosa Donor 29	rectum

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