Variant report

Variant	rs62387431
Chromosome Location	chr6:13815503-13815504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:13813812-13815677	K562	blood:	n/a	n/a
2	POLR2A	chr6:13813736-13815574	HepG2	liver:	n/a	n/a
3	MXI1	chr6:13813672-13815550	IMR90	lung:	n/a	n/a
4	POLR2A	chr6:13813863-13815675	K562	blood:	n/a	n/a
5	POLR2A	chr6:13813843-13815677	MCF10A-Er-Src	breast:	n/a	n/a
6	TBL1XR1	chr6:13814897-13815669	K562	blood:	n/a	n/a
7	EP300	chr6:13815367-13815925	GM12878	blood:	n/a	n/a
8	MYC	chr6:13813844-13815669	K562	blood:	n/a	n/a
9	SPI1	chr6:13815472-13815768	GM12891	blood:	n/a	n/a
10	IRF1	chr6:13814352-13815882	K562	blood:	n/a	chr6:13815555-13815564
11	ZMIZ1	chr6:13813805-13815688	K562	blood:	n/a	n/a
12	POLR2A	chr6:13813933-13815625	GM19099	blood:	n/a	n/a
13	UBTF	chr6:13813796-13815555	K562	blood:	n/a	n/a
14	RCOR1	chr6:13815419-13815747	K562	blood:	n/a	n/a
15	TEAD4	chr6:13813813-13815792	K562	blood:	n/a	n/a
16	POLR2A	chr6:13814008-13815654	K562	blood:	n/a	n/a
17	ARID3A	chr6:13815449-13815814	K562	blood:	n/a	n/a
18	MAX	chr6:13813775-13815592	K562	blood:	n/a	n/a
19	GATA3	chr6:13815067-13815779	SH-SY5Y	brain:	n/a	chr6:13815575-13815592
20	POLR2A	chr6:13813784-13815549	K562	blood:	n/a	n/a
21	POLR2A	chr6:13813842-13815705	Raji	blood:	n/a	n/a
22	POLR2A	chr6:13813681-13815713	SK-N-MC	brain:	n/a	n/a
23	PML	chr6:13814181-13815609	K562	blood:	n/a	n/a
24	STAT3	chr6:13815239-13815568	MCF10A-Er-Src	breast:	n/a	n/a
25	MTA3	chr6:13813762-13815740	GM12878	blood:	n/a	n/a
26	SPI1	chr6:13815437-13815698	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:13813814-13815653	GM12891	blood:	n/a	n/a
28	MXI1	chr6:13814006-13815691	GM12878	blood:	n/a	n/a
29	MAZ	chr6:13813787-13815658	K562	blood:	n/a	n/a
30	IRF1	chr6:13814316-13815678	K562	blood:	n/a	chr6:13815555-13815564
31	SPI1	chr6:13815451-13815745	GM12891	blood:	n/a	n/a
32	POLR2A	chr6:13813853-13815685	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr6:13814246-13815758	GM12878	blood:	n/a	n/a
34	TAL1	chr6:13815029-13815719	K562	blood:	n/a	n/a
35	MYC	chr6:13813701-13815630	K562	blood:	n/a	n/a
36	POLR2A	chr6:13813866-13815661	GM12878	blood:	n/a	n/a
37	MXI1	chr6:13813859-13815619	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13710342..13712818-chr6:13812780..13815719,5	MCF-7	breast:
2	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
3	chr6:13613755..13617282-chr6:13813110..13815971,5	MCF-7	breast:
4	chr6:13811882..13817297-chr6:13824102..13828307,6	K562	blood:
5	chr6:13572531..13574981-chr6:13813241..13815537,2	K562	blood:

No data

Variant related genes	Relation type
MCUR1	TF binding region
ENSG00000233075	TF binding region
ENSG00000261071	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000272209	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000010017	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13198067	1.00[AFR][1000 genomes]
rs13209220	1.00[AFR][1000 genomes]
rs13215835	1.00[AFR][1000 genomes]
rs34778758	1.00[AFR][1000 genomes]
rs56040637	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3374707	chr6:13813498-13816346	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13813200-13815600	Active TSS	HSMMtube	muscle
2	chr6:13813400-13815600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:13813400-13815600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:13813400-13815600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:13813400-13815600	Active TSS	Brain Angular Gyrus	brain
6	chr6:13813400-13815600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr6:13813400-13815600	Active TSS	Right Ventricle	heart
8	chr6:13813600-13815600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr6:13813600-13815600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:13813600-13815600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:13813600-13815600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:13813600-13815600	Active TSS	Psoas Muscle	Psoas
13	chr6:13813600-13815600	Active TSS	Thymus	Thymus
14	chr6:13815000-13815600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:13815000-13815600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr6:13815000-13815600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr6:13815000-13815600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:13815000-13815600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:13815000-13815600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:13815000-13815600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:13815000-13815600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr6:13815000-13815600	Flanking Active TSS	Liver	Liver
23	chr6:13815000-13815600	Flanking Active TSS	Fetal Heart	heart
24	chr6:13815000-13815600	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr6:13815000-13815600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:13815000-13815600	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr6:13815000-13815600	Flanking Active TSS	Dnd41	blood
28	chr6:13815000-13815600	Flanking Active TSS	GM12878-XiMat	blood
29	chr6:13815000-13815600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr6:13815000-13815600	Flanking Active TSS	NHEK	skin
31	chr6:13815000-13815600	Flanking Active TSS	Osteobl	bone
32	chr6:13815000-13815800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:13815000-13815800	Enhancers	Fetal Brain Male	brain
34	chr6:13815200-13815600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:13815200-13815600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:13815200-13815600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr6:13815200-13815600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:13815200-13815600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:13815200-13815600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:13815200-13815600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:13815200-13815600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr6:13815200-13815600	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr6:13815200-13815600	Flanking Active TSS	Fetal Kidney	kidney
44	chr6:13815200-13815600	Enhancers	Placenta	Placenta
45	chr6:13815200-13815600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr6:13815200-13815600	Enhancers	Stomach Mucosa	stomach
47	chr6:13815200-13815600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr6:13815200-13815600	Flanking Active TSS	Hela-S3	cervix
49	chr6:13815200-13815600	Flanking Active TSS	HMEC	breast
50	chr6:13815200-13815600	Enhancers	NHLF	lung

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