Variant report

Variant	rs7193598
Chromosome Location	chr16:70303418-70303419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70301047-70304603	K562	blood:	n/a	n/a
2	POLR2A	chr16:70303363-70303819	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:70303305-70303563	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:70303410-70303849	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr16:70302778-70303777	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:70303397-70303848	U87	brain:	n/a	n/a
7	POLR2A	chr16:70303336-70303765	K562	blood:	n/a	n/a
8	POLR2A	chr16:70303295-70303556	A549	lung:	n/a	n/a
9	POLR2A	chr16:70303174-70303950	K562	blood:	n/a	n/a
10	POLR2A	chr16:70303254-70303835	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70302518..70305227-chr16:70322882..70325067,2	MCF-7	breast:
2	chr16:70302571..70304253-chr16:70316380..70318407,2	K562	blood:
3	chr16:70298824..70301007-chr16:70302692..70305376,3	K562	blood:
4	chr16:70285876..70288887-chr16:70302566..70307390,4	K562	blood:
5	chr16:70302704..70305268-chr16:70318422..70320250,2	K562	blood:

No data

Variant related genes	Relation type
AARS	TF binding region
ENSG00000157349	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13334712	1.00[EUR][1000 genomes]
rs13337437	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17881316	1.00[MEX][hapmap]
rs1979594	1.00[EUR][1000 genomes]
rs57301833	1.00[EUR][1000 genomes]
rs60828997	1.00[EUR][1000 genomes]
rs7200034	0.93[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs7200891	1.00[EUR][1000 genomes]
rs8047189	0.87[AMR][1000 genomes]
rs891138	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs9921696	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs9922969	0.87[AMR][1000 genomes]
rs9924352	0.93[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs9927480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9931779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934707	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9940592	0.87[AMR][1000 genomes]
rs9940654	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1820100	chr16:70048808-70311044	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv1801017	chr16:70141558-70303736	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv906870	chr16:70295061-70323126	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70285800-70310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:70286000-70306200	Strong transcription	Rectal Mucosa Donor 31	rectum
3	chr16:70286000-70307400	Strong transcription	Primary T cells from cord blood	blood
4	chr16:70286000-70316400	Strong transcription	Liver	Liver
5	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine
6	chr16:70286000-70319000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:70286000-70320400	Strong transcription	Osteobl	bone
13	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:70286200-70304600	Strong transcription	A549	lung
16	chr16:70286200-70305800	Strong transcription	Gastric	stomach
17	chr16:70286200-70306000	Strong transcription	Brain Hippocampus Middle	brain
18	chr16:70286200-70306000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:70286200-70306800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:70286200-70306800	Strong transcription	Right Ventricle	heart
21	chr16:70286200-70306800	Strong transcription	NHLF	lung
22	chr16:70286200-70307400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:70286200-70307400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr16:70286200-70307400	Strong transcription	Brain Cingulate Gyrus	brain
25	chr16:70286200-70307600	Strong transcription	Brain Angular Gyrus	brain
26	chr16:70286200-70311000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr16:70286200-70316600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:70286200-70317200	Strong transcription	Placenta	Placenta
29	chr16:70286200-70317400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr16:70286200-70317400	Strong transcription	Fetal Thymus	thymus
31	chr16:70286200-70318600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:70286200-70319000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr16:70286200-70319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:70286200-70319800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr16:70286200-70320000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr16:70286200-70320400	Strong transcription	Fetal Muscle Leg	muscle
37	chr16:70286200-70320400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr16:70286200-70320600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr16:70286200-70321200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:70286200-70321400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:70286200-70321400	Strong transcription	Fetal Stomach	stomach
42	chr16:70286200-70321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:70286400-70306000	Strong transcription	Spleen	Spleen
44	chr16:70286400-70306200	Strong transcription	Left Ventricle	heart
45	chr16:70286400-70307200	Strong transcription	Fetal Brain Female	brain
46	chr16:70286400-70307200	Strong transcription	Thymus	Thymus
47	chr16:70286400-70308400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:70286400-70309000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:70286400-70316800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr16:70286400-70317000	Strong transcription	Primary T cells fromperipheralblood	blood

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