Variant report

Variant	rs4871403
Chromosome Location	chr8:124660837-124660838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124655670..124657756-chr8:124660016..124662293,2	K562	blood:
2	chr8:124658981..124661322-chr8:124661767..124666757,5	MCF-7	breast:
3	chr8:124640064..124642206-chr8:124659228..124661300,2	MCF-7	breast:
4	chr8:124659242..124661407-chr8:124671915..124673705,2	MCF-7	breast:
5	chr8:124647506..124650348-chr8:124660565..124662892,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10505438	1.00[YRI][hapmap]
rs11780509	0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs11784192	0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs11786734	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11991744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11994199	0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs13252050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13270650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4374971	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs4496951	0.89[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs4871402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58763139	0.82[AFR][1000 genomes]
rs6470169	0.82[ASN][1000 genomes]
rs6470170	0.89[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7387544	0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs7387855	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs7463896	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs7464171	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7464207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124656800-124666000	Weak transcription	HSMM	muscle
2	chr8:124656800-124666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:124657000-124664200	Weak transcription	Placenta	Placenta
4	chr8:124657000-124665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:124658400-124661000	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:124658800-124661400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:124658800-124661600	Weak transcription	Right Ventricle	heart
8	chr8:124659000-124661800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:124659200-124661400	Weak transcription	Psoas Muscle	Psoas
10	chr8:124659400-124667000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:124659800-124664200	Weak transcription	Fetal Stomach	stomach
12	chr8:124660000-124662400	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:124660200-124665200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
14	chr8:124660400-124661000	Transcr. at gene 5' and 3'	Left Ventricle	heart
15	chr8:124660400-124661200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:124660400-124661200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:124660400-124661200	Enhancers	Fetal Intestine Large	intestine
18	chr8:124660400-124661200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:124660400-124661200	Enhancers	Rectal Smooth Muscle	rectum
20	chr8:124660400-124661200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr8:124660400-124661200	Flanking Active TSS	A549	lung
22	chr8:124660400-124661200	Enhancers	NH-A	brain
23	chr8:124660400-124661200	Enhancers	Osteobl	bone
24	chr8:124660400-124661800	Enhancers	Fetal Intestine Small	intestine
25	chr8:124660400-124662800	Enhancers	Aorta	Aorta
26	chr8:124660600-124661200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:124660600-124661200	Enhancers	HSMMtube	muscle
28	chr8:124660600-124661800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr8:124660800-124661000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr8:124660800-124661000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr8:124660800-124661200	Enhancers	Duodenum Mucosa	Duodenum
32	chr8:124660800-124661800	Enhancers	Ovary	ovary
33	chr8:124660800-124662200	Flanking Active TSS	Fetal Heart	heart
34	chr8:124660800-124665400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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