Variant report

Variant	rs691998
Chromosome Location	chr19:39614816-39614817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr19:39614736-39615230	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr19:39614813-39615215	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr19:39614779-39615186	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr19:39614782-39615285	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXA1	chr19:39614708-39615206	HepG2	liver:	n/a	n/a
6	HDAC2	chr19:39614787-39615071	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOXA1	chr19:39614815-39615165	T-47D	breast:	n/a	n/a
8	FOXA2	chr19:39614813-39615090	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:39613319..39616155-chr19:39690923..39692457,2	K562	blood:
2	chr19:39613427..39615810-chr19:39815780..39817351,2	K562	blood:
3	chr19:39614607..39616195-chr19:39688104..39689659,2	K562	blood:
4	chr19:39613047..39614883-chr19:39644735..39646568,2	K562	blood:
5	chr19:39614796..39618723-chr19:39655193..39659848,7	MCF-7	breast:

No data

Variant related genes	Relation type
PAK4	TF binding region
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2247813	1.00[AMR][1000 genomes]
rs691133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs692059	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1067028	chr19:39567228-39622846	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1060469	chr19:39567228-39624790	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39611000-39616000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39612800-39615800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:39612800-39616000	Enhancers	Stomach Mucosa	stomach
4	chr19:39613000-39616000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:39613200-39615000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:39613200-39615000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr19:39613200-39615000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:39613200-39615000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:39613200-39615000	Weak transcription	Dnd41	blood
10	chr19:39613200-39615200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr19:39613200-39615200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr19:39613200-39615200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr19:39613200-39615200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:39613200-39615600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr19:39613200-39615800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:39613200-39615800	Weak transcription	Brain Anterior Caudate	brain
17	chr19:39613200-39615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:39613200-39615800	Weak transcription	Placenta	Placenta
19	chr19:39613400-39615200	Weak transcription	Adipose Nuclei	Adipose
20	chr19:39613400-39615800	Weak transcription	Colonic Mucosa	Colon
21	chr19:39613400-39616200	Weak transcription	Spleen	Spleen
22	chr19:39613800-39615800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:39613800-39615800	Weak transcription	Hela-S3	cervix
24	chr19:39614000-39615000	Weak transcription	K562	blood
25	chr19:39614200-39615400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:39614400-39615800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:39614600-39615000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr19:39614800-39615000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr19:39614800-39615000	Enhancers	HepG2	liver
30	chr19:39614800-39615200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:39614800-39615200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr19:39614800-39615200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr19:39614800-39615400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr19:39614800-39615400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:39614800-39615600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr19:39614800-39615800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr19:39614800-39615800	Enhancers	Liver	Liver
38	chr19:39614800-39615800	Enhancers	A549	lung
39	chr19:39614800-39616000	Enhancers	Cortex derived primary cultured neurospheres	brain

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