Variant report

Variant	rs10010949
Chromosome Location	chr4:148415115-148415116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148400462..148402309-chr4:148413592..148415499,2	K562	blood:

Variant related genes	Relation type
ENSG00000151617	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10001478	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10003944	1.00[AMR][1000 genomes]
rs10011035	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10012917	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10016209	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10019230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10024734	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305849	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305881	1.00[AMR][1000 genomes]
rs10305883	1.00[AMR][1000 genomes]
rs11939191	1.00[AMR][1000 genomes]
rs11943100	1.00[AMR][1000 genomes]
rs11943383	1.00[AMR][1000 genomes]
rs13435440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1400557	1.00[AMR][1000 genomes]
rs16998721	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28386186	1.00[AMR][1000 genomes]
rs28572568	1.00[AMR][1000 genomes]
rs28679567	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687346	1.00[AMR][1000 genomes]
rs28808633	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28889981	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs955558	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9884495	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9993718	1.00[AMR][1000 genomes]
rs9993720	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9997823	1.00[AMR][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	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv880241	chr4:148411178-148461073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148403800-148417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:148404200-148418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:148404200-148419000	Weak transcription	HMEC	breast
4	chr4:148404600-148419000	Weak transcription	NHLF	lung
5	chr4:148405800-148416000	Weak transcription	Spleen	Spleen
6	chr4:148408400-148416800	Weak transcription	Right Ventricle	heart
7	chr4:148411200-148415400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:148411200-148415600	Weak transcription	Left Ventricle	heart
9	chr4:148414200-148415400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:148414200-148417600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:148414200-148419400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:148414200-148419400	Weak transcription	HSMMtube	muscle
13	chr4:148414200-148430400	Weak transcription	Aorta	Aorta
14	chr4:148414400-148415400	Weak transcription	NHEK	skin
15	chr4:148414400-148417000	Enhancers	Fetal Heart	heart
16	chr4:148414400-148419000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:148414400-148419000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:148414400-148419000	Weak transcription	Osteobl	bone
19	chr4:148414400-148419400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:148414400-148447400	Weak transcription	Fetal Stomach	stomach
21	chr4:148414600-148415400	Weak transcription	Fetal Kidney	kidney
22	chr4:148414600-148415600	Weak transcription	Ovary	ovary
23	chr4:148414600-148419000	Weak transcription	NH-A	brain
24	chr4:148414600-148419200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:148414600-148419400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:148414800-148415400	Weak transcription	Fetal Lung	lung
27	chr4:148414800-148419000	Weak transcription	NHDF-Ad	bronchial

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