Variant report

Variant	rs59888433
Chromosome Location	chr19:41317813-41317814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41311386-41318263	K562	blood:	n/a	n/a
2	POLR2A	chr19:41313559-41318023	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:41317623-41317865	U87	brain:	n/a	n/a
4	STAT5A	chr19:41317650-41318298	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:41317620-41317891	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr19:41312066-41318528	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:41314992-41317897	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:41309752-41318497	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr19:41307117-41318353	K562	blood:	n/a	n/a
10	POLR2A	chr19:41317690-41318319	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr19:41316307-41318345	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:41317756-41318113	A549	lung:	n/a	n/a
13	NFATC1	chr19:41316908-41317907	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:41317627-41318094	U87	brain:	n/a	n/a
15	POLR2A	chr19:41312691-41317831	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr19:41317542-41317865	U87	brain:	n/a	n/a
17	POLR2A	chr19:41317621-41318168	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr19:41317499-41318389	GM12891	blood:	n/a	n/a
19	POLR2A	chr19:41317775-41318043	A549	lung:	n/a	n/a
20	POLR2A	chr19:41317702-41318016	A549	lung:	n/a	n/a
21	POLR2A	chr19:41316138-41318242	A549	lung:	n/a	n/a
22	POLR2A	chr19:41317692-41318359	GM12878	blood:	n/a	n/a
23	BCL3	chr19:41317727-41318420	A549	lung:	n/a	n/a
24	POLR2A	chr19:41317457-41317868	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr19:41317753-41317908	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr19:41317313-41318443	K562	blood:	n/a	n/a
27	POLR2A	chr19:41317428-41318001	GM12892	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41222253..41224407-chr19:41315424..41318276,2	K562	blood:
2	chr19:41312625..41314191-chr19:41317244..41319686,2	MCF-7	breast:
3	chr19:41304267..41305951-chr19:41317494..41319797,2	MCF-7	breast:

No data

Variant related genes	Relation type
CYP2T2P	TF binding region
ENSG00000086544	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000123815	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2604862	1.00[EUR][1000 genomes]
rs59129285	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41315000-41324400	Weak transcription	HepG2	liver
2	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
3	chr19:41315800-41318000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr19:41315800-41318400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:41316000-41319400	Enhancers	Spleen	Spleen
6	chr19:41316000-41319800	Enhancers	Fetal Heart	heart
7	chr19:41316200-41318000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:41316200-41318000	Active TSS	Right Atrium	heart
9	chr19:41316200-41318200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr19:41316200-41318200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:41316200-41318200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr19:41316200-41318200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:41316200-41318400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:41316200-41318400	Active TSS	Brain Angular Gyrus	brain
15	chr19:41316200-41324400	Weak transcription	Gastric	stomach
16	chr19:41316400-41318000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:41316400-41318000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr19:41316400-41318200	Active TSS	Fetal Kidney	kidney
19	chr19:41316400-41318400	Active TSS	Primary T cells from cord blood	blood
20	chr19:41316400-41318800	Weak transcription	HSMMtube	muscle
21	chr19:41316400-41325400	Weak transcription	Dnd41	blood
22	chr19:41316600-41318000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr19:41316600-41318000	Active TSS	Brain Anterior Caudate	brain
24	chr19:41316600-41318000	Active TSS	Ovary	ovary
25	chr19:41316600-41318200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:41316600-41318400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr19:41316800-41318000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr19:41316800-41318200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr19:41317000-41318200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:41317000-41318200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr19:41317000-41318200	Enhancers	A549	lung
32	chr19:41317000-41318800	Weak transcription	HSMM	muscle
33	chr19:41317200-41318000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:41317200-41318000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr19:41317200-41318000	Enhancers	Pancreas	Pancrea
36	chr19:41317200-41318200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:41317200-41318200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr19:41317200-41318200	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr19:41317200-41318200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:41317200-41318200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr19:41317200-41318200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr19:41317200-41318200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:41317200-41318200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr19:41317200-41318200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr19:41317200-41318400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:41317200-41318400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr19:41317200-41318400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr19:41317200-41318400	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr19:41317200-41318400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr19:41317200-41318600	Enhancers	NH-A	brain

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