Variant report

Variant	rs1972911
Chromosome Location	chr19:45199472-45199473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr19:45198452-45199616	K562	blood:	n/a	chr19:45198772-45198786

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45197811..45200225-chr19:45251413..45253284,2	K562	blood:
2	chr19:45197818..45200393-chr19:45265561..45267950,2	MCF-7	breast:
3	chr19:45181607..45183224-chr19:45198997..45201697,2	MCF-7	breast:
4	chr19:45197363..45200398-chr19:45211369..45214784,3	MCF-7	breast:
5	chr19:45198714..45200271-chr19:45206822..45208818,2	MCF-7	breast:
6	chr19:45196570..45199632-chr19:45349438..45352432,3	MCF-7	breast:
7	chr19:45193090..45195982-chr19:45196210..45199723,4	MCF-7	breast:
8	chr19:45198749..45200959-chr19:45203255..45206563,3	K562	blood:
9	chr19:45197381..45199585-chr19:45286324..45287857,2	K562	blood:
10	chr19:45196701..45201693-chr19:45202936..45207565,9	K562	blood:
11	chr19:45198197..45200350-chr19:45252403..45254162,3	K562	blood:
12	chr19:45192349..45194875-chr19:45196468..45199785,3	K562	blood:
13	chr19:45196176..45200462-chr19:45270253..45272839,3	K562	blood:
14	chr19:45198307..45202149-chr19:45220534..45223664,7	MCF-7	breast:
15	chr19:45188304..45193849-chr19:45197312..45200254,4	K562	blood:
16	chr19:45197716..45200499-chr19:45204444..45206576,2	MCF-7	breast:
17	chr19:45196825..45199770-chr19:45225839..45228491,3	MCF-7	breast:
18	chr19:45193665..45201150-chr19:45248511..45253202,11	MCF-7	breast:

No data

Variant related genes	Relation type
CEACAM16	TF binding region
ENSG00000069399	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000266903	Chromatin interaction
ENSG00000213892	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34830633	0.92[ASN][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	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv9737	chr19:45178110-45206629	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45192400-45202000	Enhancers	Liver	Liver
2	chr19:45193000-45200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr19:45193000-45200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:45194800-45199600	Enhancers	Fetal Intestine Large	intestine
5	chr19:45195000-45200600	Enhancers	Fetal Intestine Small	intestine
6	chr19:45195000-45202200	Enhancers	Pancreas	Pancrea
7	chr19:45195600-45200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:45195800-45200400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:45195800-45200400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr19:45195800-45200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:45195800-45200400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:45195800-45203000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr19:45196200-45202800	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr19:45196400-45200000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:45196400-45200400	Weak transcription	Fetal Heart	heart
16	chr19:45196400-45200400	Weak transcription	Right Ventricle	heart
17	chr19:45197200-45200000	Enhancers	Stomach Mucosa	stomach
18	chr19:45197600-45200600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:45197600-45200600	Weak transcription	GM12878-XiMat	blood
20	chr19:45198000-45200600	Weak transcription	Spleen	Spleen
21	chr19:45198000-45200800	Weak transcription	Colonic Mucosa	Colon
22	chr19:45198000-45201800	Weak transcription	Gastric	stomach
23	chr19:45198000-45201800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr19:45198400-45200400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr19:45198600-45200400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:45198600-45200600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:45199000-45200200	Weak transcription	Lung	lung
28	chr19:45199000-45202200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr19:45199200-45199600	Enhancers	A549	lung
30	chr19:45199200-45200800	Enhancers	K562	blood
31	chr19:45199200-45202400	Weak transcription	Hela-S3	cervix
32	chr19:45199200-45203400	Enhancers	HepG2	liver

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