Variant report

Variant	rs6517118
Chromosome Location	chr21:16331868-16331869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:16330261-16332558	PFSK-1	brain:	n/a	n/a
2	FOSL2	chr21:16330665-16332149	HepG2	liver:	n/a	chr21:16331821-16331830
3	POLR2A	chr21:16329957-16333463	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr21:16330599-16332810	HepG2	liver:	n/a	n/a
5	POLR2A	chr21:16329878-16332033	HepG2	liver:	n/a	n/a
6	POLR2A	chr21:16330457-16332854	A549	lung:	n/a	n/a
7	CTCF	chr21:16331840-16331990	RPTEC	kidney:	n/a	n/a
8	POLR2A	chr21:16329354-16336336	HepG2	liver:	n/a	n/a
9	POLR2A	chr21:16327648-16332750	MCF-7	breast:	n/a	n/a
10	POLR2A	chr21:16330362-16332432	GM12891	blood:	n/a	n/a
11	POLR2A	chr21:16330516-16334228	K562	blood:	n/a	n/a
12	POLR2A	chr21:16331703-16331944	ProgFib	skin:	n/a	n/a
13	POLR2A	chr21:16331662-16332461	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16326039..16327819-chr21:16329413..16331941,2	K562	blood:
2	chr21:16320609..16323357-chr21:16329822..16332001,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229047	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10482863	0.96[EUR][1000 genomes]
rs12481775	0.94[EUR][1000 genomes]
rs17241025	0.82[AMR][1000 genomes];0.96[EUR][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	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16313200-16334800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr21:16315600-16338000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr21:16322400-16339200	Weak transcription	Pancreas	Pancrea
4	chr21:16327800-16332400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:16328000-16335800	Weak transcription	Dnd41	blood
6	chr21:16328200-16334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:16328200-16335600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:16328200-16335600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr21:16328200-16338800	Weak transcription	HUVEC	blood vessel
10	chr21:16328400-16334400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:16328600-16335600	Weak transcription	K562	blood
12	chr21:16328600-16337600	Weak transcription	Psoas Muscle	Psoas
13	chr21:16328800-16335800	Weak transcription	Fetal Muscle Leg	muscle
14	chr21:16328800-16337200	Weak transcription	Left Ventricle	heart
15	chr21:16328800-16339400	Weak transcription	Ovary	ovary
16	chr21:16328800-16341600	Weak transcription	Hela-S3	cervix
17	chr21:16329000-16338000	Weak transcription	Placenta	Placenta
18	chr21:16329600-16335600	Weak transcription	Fetal Kidney	kidney
19	chr21:16329600-16338400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr21:16329600-16338800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr21:16330000-16335400	Weak transcription	HSMM	muscle
22	chr21:16330000-16337600	Weak transcription	Fetal Stomach	stomach
23	chr21:16330200-16335400	Weak transcription	HMEC	breast
24	chr21:16330400-16334800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr21:16330400-16335400	Weak transcription	NH-A	brain
26	chr21:16330400-16338600	Weak transcription	NHLF	lung
27	chr21:16330600-16337200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr21:16330800-16334600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:16330800-16335400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:16331000-16335600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:16331000-16335800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:16331000-16337400	Weak transcription	Osteobl	bone
33	chr21:16331000-16337800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:16331000-16338600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:16331000-16338600	Weak transcription	Brain Hippocampus Middle	brain
36	chr21:16331000-16338800	Weak transcription	Colon Smooth Muscle	Colon
37	chr21:16331400-16332200	Enhancers	A549	lung
38	chr21:16331400-16335600	Weak transcription	HepG2	liver
39	chr21:16331400-16339200	Weak transcription	Brain Substantia Nigra	brain
40	chr21:16331400-16339600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr21:16331600-16334600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:16331600-16335800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:16331600-16338000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr21:16331600-16341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr21:16331800-16332200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr21:16331800-16340200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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