Variant report

Variant	rs34978340
Chromosome Location	chr6:44036730-44036731
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:44036395-44036780	H1-hESC	embryonic stem cell:	n/a	n/a
2	STAT3	chr6:44036615-44036826	MCF10A-Er-Src	breast:	n/a	n/a
3	ATF2	chr6:44036339-44036789	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr6:44036281-44036795	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXA2	chr6:44036309-44036764	A549	lung:	n/a	n/a
6	FOXA1	chr6:44036464-44036765	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr6:44036235-44036751	H1-hESC	embryonic stem cell:	n/a	n/a
8	STAT3	chr6:44036479-44036771	MCF10A-Er-Src	breast:	n/a	chr6:44036488-44036509
9	GTF2F1	chr6:44036505-44036741	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr6:44036364-44036776	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr6:44036504-44036993	H1-hESC	embryonic stem cell:	n/a	chr6:44036896-44036907
12	MAX	chr6:44036309-44036880	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr6:44036397-44036734	K562	blood:	n/a	n/a
14	MAX	chr6:44036268-44036887	A549	lung:	n/a	n/a
15	FOS	chr6:44036598-44036763	MCF10A-Er-Src	breast:	n/a	n/a
16	KAP1	chr6:44036347-44036828	HEK293	kidney:	n/a	n/a
17	E2F6	chr6:44036348-44036799	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:43736781..43738681-chr6:44035583..44037234,2	MCF-7	breast:
2	chr6:44030222..44032797-chr6:44035126..44037771,3	MCF-7	breast:
3	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
4	chr6:43596893..43598722-chr6:44035498..44037676,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231881	TF binding region
ENSG00000272114	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000124688	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58635644	0.81[ASN][1000 genomes]
rs72867268	0.99[ASN][1000 genomes]
rs72867275	0.99[ASN][1000 genomes]
rs72867277	0.99[ASN][1000 genomes]
rs72867279	0.96[ASN][1000 genomes]
rs72867290	0.84[ASN][1000 genomes]
rs7763084	0.81[ASN][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	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44005800-44036800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:44022400-44040400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:44030000-44040800	Weak transcription	Gastric	stomach
4	chr6:44030200-44040400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:44031200-44040600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:44033200-44040000	Enhancers	K562	blood
7	chr6:44033200-44040400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:44033400-44039400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:44033400-44040200	Weak transcription	Colonic Mucosa	Colon
10	chr6:44033600-44039400	Weak transcription	Fetal Heart	heart
11	chr6:44033800-44040200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:44034000-44039200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:44034000-44040000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:44034000-44040200	Weak transcription	Lung	lung
15	chr6:44034200-44036800	Enhancers	Fetal Muscle Leg	muscle
16	chr6:44034200-44038200	Enhancers	Hela-S3	cervix
17	chr6:44034400-44039200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:44034600-44036800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:44034600-44040400	Weak transcription	Spleen	Spleen
20	chr6:44034800-44036800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr6:44035000-44037000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:44035200-44039000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:44035200-44040000	Weak transcription	Fetal Intestine Small	intestine
24	chr6:44035400-44037000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:44035400-44039400	Weak transcription	NHEK	skin
26	chr6:44035400-44040400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:44035600-44037000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:44035600-44039000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:44035600-44039600	Weak transcription	HSMMtube	muscle
30	chr6:44035600-44040200	Weak transcription	Pancreas	Pancrea
31	chr6:44035600-44040400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr6:44035800-44039200	Weak transcription	Fetal Lung	lung
33	chr6:44035800-44039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:44035800-44040000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:44035800-44040400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:44036000-44036800	Enhancers	A549	lung
37	chr6:44036000-44037200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:44036000-44039000	Weak transcription	NHLF	lung
39	chr6:44036000-44039000	Weak transcription	Osteobl	bone
40	chr6:44036000-44039800	Weak transcription	GM12878-XiMat	blood
41	chr6:44036000-44040200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:44036000-44040200	Weak transcription	Right Ventricle	heart
43	chr6:44036200-44037000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:44036200-44037000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:44036200-44037200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:44036200-44037200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:44036200-44038800	Weak transcription	HMEC	breast
48	chr6:44036400-44036800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:44036400-44036800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:44036400-44037200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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