Variant report

Variant	rs71439795
Chromosome Location	chr13:39609568-39609569
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr13:39609410-39609637	MCF10A-Er-Src	breast:	n/a	n/a
2	MXI1	chr13:39609476-39609632	K562	blood:	n/a	n/a
3	NRF1	chr13:39609274-39609631	H1-hESC	embryonic stem cell:	n/a	n/a
4	KAP1	chr13:39609332-39610079	HEK293	kidney:	n/a	n/a
5	GATA1	chr13:39608902-39610135	PBDE	blood:	n/a	n/a
6	SIN3A	chr13:39609383-39609805	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr13:39609509-39611304	MCF10A-Er-Src	breast:	n/a	chr13:39610504-39610514 chr13:39610831-39610839
8	MYC	chr13:39609367-39610703	MCF10A-Er-Src	breast:	n/a	chr13:39610504-39610514
9	MAZ	chr13:39609333-39609649	K562	blood:	n/a	n/a
10	WRNIP1	chr13:39609399-39609600	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:39608105..39609639-chr13:40260400..40262356,2	K562	blood:

Variant related genes	Relation type
PROSER1	TF binding region
NHLRC3	TF binding region
ENSG00000133103	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492687	1.00[EUR][1000 genomes]
rs71425703	1.00[EUR][1000 genomes]
rs71439790	1.00[EUR][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39588600-39610400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:39598000-39609600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr13:39598400-39609600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr13:39599800-39610400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:39599800-39610600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:39599800-39611200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:39600600-39610600	Weak transcription	Lung	lung
8	chr13:39607200-39610000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr13:39607600-39609600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr13:39607600-39609600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr13:39608200-39609600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr13:39608400-39609600	Enhancers	Colon Smooth Muscle	Colon
13	chr13:39608400-39609600	Enhancers	Esophagus	oesophagus
14	chr13:39608400-39609600	Enhancers	Left Ventricle	heart
15	chr13:39608400-39609600	Enhancers	Pancreas	Pancrea
16	chr13:39608400-39609600	Enhancers	Thymus	Thymus
17	chr13:39608400-39609600	Enhancers	Spleen	Spleen
18	chr13:39608400-39609800	Enhancers	Fetal Thymus	thymus
19	chr13:39608400-39610000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:39608400-39610000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr13:39608400-39610000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr13:39608400-39610400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr13:39608400-39610400	Enhancers	Primary B cells from peripheral blood	blood
24	chr13:39608600-39610000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr13:39608600-39610200	Flanking Active TSS	Dnd41	blood
26	chr13:39608600-39610800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:39608800-39609600	Enhancers	Fetal Heart	heart
28	chr13:39608800-39609600	Enhancers	Stomach Mucosa	stomach
29	chr13:39608800-39609800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:39608800-39609800	Flanking Active TSS	Fetal Brain Female	brain
31	chr13:39608800-39609800	Flanking Active TSS	HepG2	liver
32	chr13:39608800-39610000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr13:39608800-39610000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:39608800-39610200	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr13:39608800-39610200	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr13:39608800-39610400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr13:39608800-39610400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr13:39608800-39611200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:39609000-39609600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr13:39609000-39609600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr13:39609000-39609600	Flanking Active TSS	NHEK	skin
42	chr13:39609000-39609800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:39609000-39609800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr13:39609000-39610400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:39609000-39610400	Enhancers	Fetal Brain Male	brain
46	chr13:39609000-39611400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:39609000-39615000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:39609000-39615200	Active TSS	K562	blood
49	chr13:39609200-39609600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr13:39609200-39609600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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