Variant report

Variant	rs73733871
Chromosome Location	chr6:44185125-44185126
allele	C/T
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	JUND	chr6:44185041-44185241	H1-hESC	embryonic stem cell:	n/a	chr6:44185189-44185199 chr6:44185189-44185199 chr6:44185191-44185202 chr6:44185190-44185198 chr6:44185188-44185200
2	POLR2A	chr6:44185078-44187512	PANC-1	pancreas:	n/a	n/a
3	MAX	chr6:44184922-44185509	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr6:44184904-44185621	HepG2	liver:	n/a	n/a
5	CTCF	chr6:44185100-44185250	GM12865	blood:	n/a	n/a
6	MAX	chr6:44185086-44185392	HepG2	liver:	n/a	n/a
7	TCF12	chr6:44184695-44185834	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr6:44184804-44185723	ECC-1	luminal epithelium:	n/a	n/a
9	NR3C1	chr6:44184995-44185398	ECC-1	luminal epithelium:	n/a	n/a
10	NR3C1	chr6:44184984-44185515	ECC-1	luminal epithelium:	n/a	n/a
11	FOS	chr6:44185041-44185311	MCF10A-Er-Src	breast:	n/a	chr6:44185189-44185199 chr6:44185189-44185199 chr6:44185191-44185202 chr6:44185190-44185198 chr6:44185188-44185200
12	POLR2A	chr6:44185053-44187759	K562	blood:	n/a	n/a
13	EP300	chr6:44184641-44186696	ECC-1	luminal epithelium:	n/a	chr6:44184748-44184761 chr6:44186200-44186209
14	E2F4	chr6:44185080-44185364	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr6:44184911-44185586	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr6:44184335-44187693	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr6:44184801-44185722	ECC-1	luminal epithelium:	n/a	n/a
18	TEAD4	chr6:44184788-44185693	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr6:44184997-44185410	ECC-1	luminal epithelium:	n/a	n/a
20	NFIC	chr6:44184827-44185789	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr6:44185073-44185543	PANC-1	pancreas:	n/a	n/a
22	MYC	chr6:44185070-44185371	MCF10A-Er-Src	breast:	n/a	n/a
23	MXI1	chr6:44185020-44185426	HepG2	liver:	n/a	n/a
24	FOS	chr6:44185041-44185324	MCF10A-Er-Src	breast:	n/a	chr6:44185189-44185199 chr6:44185189-44185199 chr6:44185191-44185202 chr6:44185190-44185198 chr6:44185188-44185200
25	E2F6	chr6:44184846-44185661	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr6:44184479-44185289	H1-hESC	embryonic stem cell:	n/a	n/a
27	TCF12	chr6:44184425-44186612	ECC-1	luminal epithelium:	n/a	n/a
28	TEAD4	chr6:44184751-44185693	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr6:44184891-44185527	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr6:44184786-44185694	ECC-1	luminal epithelium:	n/a	n/a
31	E2F6	chr6:44184948-44185543	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:44185074-44185320	H1-hESC	embryonic stem cell:	n/a	n/a
33	ESR1	chr6:44185008-44185546	ECC-1	luminal epithelium:	n/a	n/a
34	NFIC	chr6:44184741-44185848	ECC-1	luminal epithelium:	n/a	n/a
35	MYC	chr6:44185097-44185274	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:44185040-44185341	MCF10A-Er-Src	breast:	n/a	chr6:44185189-44185199 chr6:44185189-44185199 chr6:44185191-44185202 chr6:44185190-44185198 chr6:44185188-44185200
37	MAX	chr6:44184832-44185635	HepG2	liver:	n/a	n/a
38	ESR1	chr6:44184924-44185584	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44095005..44097134-chr6:44184170..44186416,2	K562	blood:

Variant related genes	Relation type
SLC29A1	TF binding region
ENSG00000137216	Chromatin interaction
ENSG00000180992	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11571982	1.00[AMR][1000 genomes]
rs11572016	1.00[AMR][1000 genomes]
rs3778504	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44183600-44186800	Enhancers	Fetal Stomach	stomach
2	chr6:44183800-44185400	Enhancers	Liver	Liver
3	chr6:44183800-44185600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:44183800-44186000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr6:44183800-44186200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:44183800-44186200	Enhancers	Duodenum Mucosa	Duodenum
7	chr6:44183800-44186200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr6:44183800-44186200	Enhancers	Stomach Mucosa	stomach
9	chr6:44183800-44186400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:44183800-44186400	Enhancers	Gastric	stomach
11	chr6:44183800-44186600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:44183800-44186600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:44183800-44186600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:44183800-44186600	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:44183800-44186600	Enhancers	Placenta	Placenta
16	chr6:44183800-44186800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:44183800-44186800	Enhancers	Fetal Intestine Large	intestine
18	chr6:44183800-44186800	Enhancers	Fetal Intestine Small	intestine
19	chr6:44183800-44186800	Enhancers	Fetal Lung	lung
20	chr6:44183800-44186800	Enhancers	Left Ventricle	heart
21	chr6:44183800-44186800	Enhancers	Thymus	Thymus
22	chr6:44184000-44185800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:44184000-44186800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:44184200-44186800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:44184400-44185200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:44184400-44185200	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr6:44184400-44185200	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr6:44184400-44185400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr6:44184400-44185600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:44184400-44185600	Enhancers	Esophagus	oesophagus
31	chr6:44184400-44185600	Enhancers	NHEK	skin
32	chr6:44184400-44185800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:44184400-44185800	Flanking Active TSS	Pancreas	Pancrea
34	chr6:44184400-44185800	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr6:44184400-44185800	Enhancers	HMEC	breast
36	chr6:44184400-44186000	Enhancers	GM12878-XiMat	blood
37	chr6:44184400-44186400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:44184400-44186400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:44184400-44186600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:44184400-44186600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr6:44184400-44186600	Flanking Active TSS	HSMM	muscle
42	chr6:44184400-44186800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:44184400-44186800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr6:44184400-44186800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:44184400-44186800	Enhancers	Brain Hippocampus Middle	brain
46	chr6:44184400-44186800	Enhancers	Brain Substantia Nigra	brain
47	chr6:44184400-44186800	Enhancers	K562	blood
48	chr6:44184400-44187000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:44184400-44187200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr6:44184400-44187400	Flanking Active TSS	Fetal Muscle Trunk	muscle

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