Variant report

Variant	rs41286947
Chromosome Location	chr13:39613641-39613642
allele	A/C
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	MAX	chr13:39610127-39614057	NB4	blood:	n/a	chr13:39610504-39610514 chr13:39610831-39610839
2	POLR2A	chr13:39611551-39613699	GM18526	blood:	n/a	n/a
3	POLR2A	chr13:39611416-39613914	GM19099	blood:	n/a	n/a
4	MYC	chr13:39610008-39613668	NB4	blood:	n/a	chr13:39610504-39610514 chr13:39610831-39610839
5	POLR2A	chr13:39613609-39613914	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr13:39612835-39613677	IMR90	lung:	n/a	chr13:39613522-39613535 chr13:39613522-39613533 chr13:39613524-39613533 chr13:39613524-39613533 chr13:39613524-39613533 chr13:39613522-39613535 chr13:39613524-39613533
7	POLR2A	chr13:39611578-39613908	GM18505	blood:	n/a	n/a
8	RCOR1	chr13:39613340-39613767	K562	blood:	n/a	n/a
9	EP300	chr13:39613527-39613932	K562	blood:	n/a	n/a
10	CEBPB	chr13:39613337-39613669	HepG2	liver:	n/a	chr13:39613522-39613535 chr13:39613522-39613533 chr13:39613524-39613533 chr13:39613524-39613533 chr13:39613524-39613533 chr13:39613522-39613535 chr13:39613524-39613533
11	POLR2A	chr13:39611594-39613785	GM12892	blood:	n/a	n/a
12	CEBPB	chr13:39613385-39613688	Hela-S3	cervix:	n/a	chr13:39613522-39613535 chr13:39613522-39613533 chr13:39613524-39613533 chr13:39613524-39613533 chr13:39613524-39613533 chr13:39613522-39613535 chr13:39613524-39613533
13	POLR2A	chr13:39610377-39613654	GM12891	blood:	n/a	n/a
14	FOXA1	chr13:39613194-39613694	HepG2	liver:	n/a	chr13:39613425-39613440
15	FOXA1	chr13:39613198-39613712	HepG2	liver:	n/a	chr13:39613425-39613440

No.	Distal block	Cell Line	Cell type
1	chr13:39520213..39521754-chr13:39613104..39615261,2	MCF-7	breast:
2	chr1:149223559..149225520-chr13:39611961..39613912,2	MCF-7	breast:
3	chr13:39584395..39587085-chr13:39611673..39614003,2	MCF-7	breast:
4	chr13:39610419..39613692-chr13:39616080..39618520,4	K562	blood:

Variant related genes	Relation type
NHLRC3	TF binding region
PROSER1	TF binding region
ENSG00000206737	Chromatin interaction
ENSG00000188811	Chromatin interaction
ENSG00000120685	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10454606	1.00[ASN][1000 genomes]
rs9603458	1.00[ASN][1000 genomes]
rs9603478	1.00[ASN][1000 genomes]
rs9603493	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603506	1.00[ASN][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39609000-39615000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:39609000-39615200	Active TSS	K562	blood
3	chr13:39609200-39613800	Active TSS	GM12878-XiMat	blood
4	chr13:39609400-39613800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr13:39609400-39613800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:39609600-39613800	Active TSS	Fetal Muscle Leg	muscle
7	chr13:39609600-39613800	Active TSS	NHEK	skin
8	chr13:39609600-39614000	Active TSS	Hela-S3	cervix
9	chr13:39609600-39614200	Active TSS	Fetal Intestine Large	intestine
10	chr13:39609600-39614800	Active TSS	Placenta	Placenta
11	chr13:39609800-39613800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:39609800-39614400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:39610200-39613800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:39610200-39613800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr13:39610200-39613800	Active TSS	Brain Germinal Matrix	brain
16	chr13:39610200-39613800	Active TSS	Fetal Intestine Small	intestine
17	chr13:39610200-39613800	Active TSS	Fetal Stomach	stomach
18	chr13:39611000-39614000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr13:39611400-39613800	Active TSS	Brain Anterior Caudate	brain
20	chr13:39611400-39613800	Active TSS	Brain Hippocampus Middle	brain
21	chr13:39612600-39613800	Flanking Active TSS	HUVEC	blood vessel
22	chr13:39612600-39614000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:39612800-39614000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr13:39612800-39614000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:39612800-39614000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr13:39613000-39613800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:39613000-39613800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr13:39613000-39613800	Active TSS	HMEC	breast
29	chr13:39613000-39614800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr13:39613000-39629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:39613000-39636200	Weak transcription	Spleen	Spleen
32	chr13:39613200-39613800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr13:39613200-39613800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr13:39613200-39613800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr13:39613200-39614000	Enhancers	Primary B cells from peripheral blood	blood
36	chr13:39613200-39614000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:39613200-39614000	Flanking Active TSS	Fetal Brain Male	brain
38	chr13:39613200-39614600	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr13:39613200-39614600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:39613200-39622200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr13:39613200-39626600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr13:39613200-39636400	Weak transcription	Gastric	stomach
43	chr13:39613200-39637200	Weak transcription	Pancreas	Pancrea
44	chr13:39613200-39647000	Weak transcription	Left Ventricle	heart
45	chr13:39613200-39647200	Weak transcription	Lung	lung
46	chr13:39613400-39613800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr13:39613400-39613800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:39613400-39613800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr13:39613400-39613800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:39613400-39613800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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