Variant report

Variant	rs16975216
Chromosome Location	chr19:41907675-41907676
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41907289-41907770	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:41907387-41907735	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr19:41907340-41907786	K562	blood:	n/a	n/a
4	POLR2A	chr19:41907226-41907931	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr19:41907170-41907898	HUVEC	blood vessel:	n/a	n/a
6	JUN	chr19:41907373-41907784	HUVEC	blood vessel:	n/a	n/a
7	GATA2	chr19:41907241-41907857	HUVEC	blood vessel:	n/a	chr19:41907502-41907512 chr19:41907512-41907523
8	POLR2A	chr19:41907567-41907950	HUVEC	blood vessel:	n/a	n/a
9	FOS	chr19:41907290-41907845	HUVEC	blood vessel:	n/a	chr19:41907583-41907594

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41902184..41905060-chr19:41906998..41909167,2	K562	blood:
2	chr19:41907449..41909771-chr19:41911047..41915349,5	K562	blood:
3	chr19:41903313..41906456-chr19:41906773..41909947,5	MCF-7	breast:
4	chr19:41906917..41909746-chr19:41913485..41915349,3	K562	blood:
5	chr19:41899828..41905293-chr19:41906916..41917787,16	MCF-7	breast:
6	chr19:41907527..41910861-chr19:41922329..41925722,3	K562	blood:
7	chr19:41907449..41909771-chr19:41910528..41913301,3	K562	blood:

No data

Variant related genes	Relation type
EXOSC5	TF binding region
ENSG00000248098	Chromatin interaction
ENSG00000268987	Chromatin interaction
ENSG00000077348	Chromatin interaction

rs_ID	r²[population]
rs3087453	1.00[AMR][1000 genomes]
rs59787053	1.00[EUR][1000 genomes]
rs73560860	1.00[EUR][1000 genomes]

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41904200-41913400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:41904600-41924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:41904800-41913200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:41904800-41914800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:41905000-41912800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:41905000-41912800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:41905000-41915200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr19:41905000-41916000	Weak transcription	Gastric	stomach
9	chr19:41905000-41916400	Weak transcription	Brain Germinal Matrix	brain
10	chr19:41905000-41916600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:41905000-41916600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:41905000-41924800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:41905000-41930800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:41905200-41907800	Weak transcription	Primary B cells from cord blood	blood
15	chr19:41905200-41907800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr19:41905200-41908400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr19:41905200-41908400	Weak transcription	Right Ventricle	heart
18	chr19:41905200-41908800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:41905200-41908800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:41905200-41908800	Weak transcription	Thymus	Thymus
21	chr19:41905200-41909000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:41905200-41909000	Weak transcription	Pancreas	Pancrea
23	chr19:41905200-41911800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:41905200-41912800	Weak transcription	Brain Anterior Caudate	brain
25	chr19:41905200-41912800	Weak transcription	Fetal Heart	heart
26	chr19:41905200-41913000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:41905200-41913000	Weak transcription	Brain Angular Gyrus	brain
28	chr19:41905200-41913000	Weak transcription	Stomach Mucosa	stomach
29	chr19:41905200-41913400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:41905200-41913400	Weak transcription	NH-A	brain
31	chr19:41905200-41914200	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:41905200-41914400	Weak transcription	Psoas Muscle	Psoas
33	chr19:41905200-41914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:41905200-41914800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:41905200-41915000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:41905200-41915000	Weak transcription	HMEC	breast
37	chr19:41905200-41915200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:41905200-41915200	Weak transcription	HSMM	muscle
39	chr19:41905200-41915200	Weak transcription	NHEK	skin
40	chr19:41905200-41915200	Weak transcription	Osteobl	bone
41	chr19:41905200-41916000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr19:41905200-41916000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr19:41905200-41916600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:41905200-41916600	Weak transcription	Fetal Thymus	thymus
45	chr19:41905200-41916800	Weak transcription	Aorta	Aorta
46	chr19:41905200-41916800	Weak transcription	Ovary	ovary
47	chr19:41905200-41917000	Weak transcription	Colonic Mucosa	Colon
48	chr19:41905200-41917200	Weak transcription	Fetal Lung	lung
49	chr19:41905200-41917400	Weak transcription	Brain Substantia Nigra	brain
50	chr19:41905200-41917600	Weak transcription	HSMMtube	muscle

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