Variant report

Variant	rs10414606
Chromosome Location	chr19:40736212-40736213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40736124-40736609	SK-N-MC	brain:	n/a	n/a
2	MAFF	chr19:40735959-40736229	HepG2	liver:	n/a	n/a
3	MAFK	chr19:40735980-40736255	IMR90	lung:	n/a	n/a
4	POLR2A	chr19:40736103-40736391	GM12891	blood:	n/a	n/a
5	POLR2A	chr19:40736128-40736566	K562	blood:	n/a	n/a
6	SIN3AK20	chr19:40731136-40743299	PANC-1	pancreas:	n/a	n/a
7	FOSL2	chr19:40736185-40736625	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:40735253-40736312	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr19:40736169-40736501	HL-60	blood:	n/a	n/a
10	POLR2A	chr19:40734983-40736721	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:40736128-40736612	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr19:40736079-40736748	GM12892	blood:	n/a	n/a
13	MAFK	chr19:40735944-40736264	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:40736068-40736789	K562	blood:	n/a	n/a
15	POLR2A	chr19:40736201-40736487	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:40733354-40739269	K562	blood:	n/a	n/a
17	MAFK	chr19:40735953-40736248	HepG2	liver:	n/a	n/a
18	BCL3	chr19:40734834-40736286	A549	lung:	n/a	n/a
19	POLR2A	chr19:40735004-40736571	HepG2	liver:	n/a	n/a
20	MAFF	chr19:40735995-40736257	K562	blood:	n/a	n/a
21	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
22	MAFK	chr19:40735980-40736237	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr19:40736189-40736880	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40735147..40737446-chr19:40752058..40754215,2	MCF-7	breast:
2	chr19:40728992..40731621-chr19:40735864..40738541,3	K562	blood:
3	chr19:40735441..40737770-chr19:40748131..40750803,2	MCF-7	breast:
4	chr19:40734116..40737610-chr19:40738895..40742001,3	MCF-7	breast:

No data

Variant related genes	Relation type
CNTD2	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000105219	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10417233	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10421448	1.00[AMR][1000 genomes]
rs10424704	1.00[AMR][1000 genomes]
rs28551602	1.00[AMR][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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732200-40737000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:40732400-40740800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:40732600-40737000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:40732600-40737400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:40732600-40737600	Weak transcription	Brain Anterior Caudate	brain
6	chr19:40732600-40739000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:40732600-40740400	Weak transcription	Brain Substantia Nigra	brain
8	chr19:40732800-40737000	Weak transcription	Spleen	Spleen
9	chr19:40732800-40737200	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:40732800-40737400	Weak transcription	Left Ventricle	heart
11	chr19:40732800-40737400	Weak transcription	Right Atrium	heart
12	chr19:40732800-40737600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:40732800-40737600	Weak transcription	Lung	lung
14	chr19:40732800-40737600	Weak transcription	Right Ventricle	heart
15	chr19:40732800-40738000	Weak transcription	Ovary	ovary
16	chr19:40732800-40738000	Weak transcription	Pancreas	Pancrea
17	chr19:40732800-40738000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:40732800-40738400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:40732800-40738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:40732800-40738800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:40732800-40739200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:40732800-40740800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:40732800-40740800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr19:40732800-40740800	Weak transcription	HMEC	breast
25	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:40733000-40737000	Weak transcription	Hela-S3	cervix
27	chr19:40733000-40737400	Weak transcription	NHLF	lung
28	chr19:40733000-40737600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:40733000-40738000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:40733000-40738000	Weak transcription	Dnd41	blood
31	chr19:40733000-40739000	Enhancers	Placenta	Placenta
32	chr19:40733000-40739000	Weak transcription	Gastric	stomach
33	chr19:40733000-40740800	Weak transcription	GM12878-XiMat	blood
34	chr19:40733600-40738000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr19:40733800-40737400	Weak transcription	Fetal Stomach	stomach
36	chr19:40734000-40737600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:40734000-40742000	Weak transcription	Small Intestine	intestine
38	chr19:40734200-40737200	Weak transcription	Liver	Liver
39	chr19:40734200-40737400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr19:40734200-40737400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:40734200-40737400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr19:40734200-40738600	Weak transcription	Esophagus	oesophagus
43	chr19:40734200-40739000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:40734400-40737400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:40734400-40738000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr19:40734400-40738000	Weak transcription	Thymus	Thymus
47	chr19:40734400-40738800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr19:40734600-40736800	Weak transcription	Fetal Intestine Small	intestine
49	chr19:40734600-40737000	Weak transcription	Fetal Intestine Large	intestine
50	chr19:40734600-40737800	Weak transcription	H9 Cell Line	embryonic stem cell

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