Variant report

Variant	rs4561508
Chromosome Location	chr17:16848750-16848751
allele	C/T
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	chr17:16847656-16849067	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:16845763-16848912	GM18505	blood:	n/a	n/a
3	POLR2A	chr17:16845628-16849512	GM12892	blood:	n/a	n/a
4	POLR2A	chr17:16846099-16848820	GM12892	blood:	n/a	n/a
5	POLR2A	chr17:16846219-16849536	GM12892	blood:	n/a	n/a
6	POLR2A	chr17:16845221-16849358	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:16845998-16849832	GM12892	blood:	n/a	n/a
8	POLR2A	chr17:16846057-16849577	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:16845599-16849822	GM12878	blood:	n/a	n/a
10	POLR2A	chr17:16846165-16849578	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16825314..16827941-chr17:16845624..16848889,3	MCF-7	breast:

Variant related genes	Relation type
TNFRSF13B	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4273077	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs4404112	0.80[TSI][hapmap]
rs4792800	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs4985726	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv2753951	chr17:16660721-16848750	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2755100	chr17:16660721-16848750	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv833379	chr17:16683585-16859539	Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1055688	chr17:16800788-16868860	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv907726	chr17:16821204-16875636	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv275147	chr17:16845167-16848750	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Serum total protein level	23022100	GWAS catalog
Hematology traits	23303382	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16842600-16849200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:16844200-16848800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:16844200-16849000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr17:16844200-16849200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:16844200-16852000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr17:16844400-16848800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:16844400-16848800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr17:16844400-16848800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:16846400-16850400	Enhancers	Brain Hippocampus Middle	brain
10	chr17:16846400-16851600	Enhancers	Brain Cingulate Gyrus	brain
11	chr17:16846600-16848800	Weak transcription	A549	lung
12	chr17:16846600-16849400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr17:16846600-16852000	Genic enhancers	Primary B cells from peripheral blood	blood
14	chr17:16847400-16850400	Genic enhancers	GM12878-XiMat	blood
15	chr17:16847800-16851600	Enhancers	Primary B cells from cord blood	blood
16	chr17:16848000-16849400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:16848000-16849400	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr17:16848000-16849400	Strong transcription	Spleen	Spleen
19	chr17:16848200-16849000	Weak transcription	Brain Anterior Caudate	brain
20	chr17:16848200-16849000	Bivalent Enhancer	HepG2	liver
21	chr17:16848200-16849600	Enhancers	Pancreas	Pancrea
22	chr17:16848200-16849800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr17:16848600-16848800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:16848600-16849400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr17:16848600-16849400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr17:16848600-16850400	Enhancers	Brain Angular Gyrus	brain
27	chr17:16848600-16851800	Enhancers	Brain Substantia Nigra	brain

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