Variant report

Variant	rs34413173
Chromosome Location	chr2:10984402-10984403
allele	A/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	MYC	chr2:10984314-10984495	H1-hESC	embryonic stem cell:	n/a	n/a
2	NANOG	chr2:10984122-10984573	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr2:10984278-10984470	H1-hESC	embryonic stem cell:	n/a	n/a
4	STAT3	chr2:10984216-10984524	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr2:10984254-10984454	MCF10A-Er-Src	breast:	n/a	n/a
6	MEF2A	chr2:10984069-10984648	SK-N-SH	brain:	n/a	n/a
7	CHD2	chr2:10984253-10984449	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr2:10984161-10984547	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr2:10984156-10984588	ECC-1	luminal epithelium:	n/a	n/a
10	NFIC	chr2:10984095-10984631	ECC-1	luminal epithelium:	n/a	n/a
11	SP1	chr2:10984061-10984618	H1-hESC	embryonic stem cell:	n/a	chr2:10984262-10984276 chr2:10984304-10984314 chr2:10984304-10984314
12	TEAD4	chr2:10984160-10984508	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F4	chr2:10984239-10984530	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr2:10984324-10984467	MCF10A-Er-Src	breast:	n/a	n/a
15	TBP	chr2:10984226-10984583	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOS	chr2:10984322-10984418	MCF10A-Er-Src	breast:	n/a	n/a
17	HDAC2	chr2:10984174-10984537	MCF-7	breast:	n/a	n/a
18	TEAD4	chr2:10984128-10984550	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr2:10984400-10984550	RPTEC	kidney:	n/a	n/a
20	MEF2A	chr2:10984047-10984618	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr2:10984137-10984587	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10983477..10986559-chr2:11261395..11265674,4	MCF-7	breast:
2	chr2:10984035..10986902-chr2:10994929..10997652,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232056	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34414864	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35968103	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59164865	0.88[AFR][1000 genomes]
rs62120316	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10979400-11000400	Weak transcription	Fetal Brain Male	brain
2	chr2:10982800-10984600	Enhancers	Fetal Muscle Leg	muscle
3	chr2:10983400-10984800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:10983800-10984800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:10983800-10984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:10983800-10984800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:10983800-10984800	Enhancers	Placenta	Placenta
8	chr2:10983800-10984800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr2:10983800-10985000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:10984000-10984600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:10984000-10984600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:10984000-10984600	Enhancers	HSMM	muscle
13	chr2:10984000-10984800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:10984000-10984800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:10984000-10984800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:10984000-10984800	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:10984000-10984800	Enhancers	Fetal Muscle Trunk	muscle
18	chr2:10984000-10984800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr2:10984000-10984800	Enhancers	HSMMtube	muscle
20	chr2:10984200-10984600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:10984200-10984600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:10984200-10984600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:10984200-10984600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:10984200-10984600	Enhancers	Fetal Intestine Large	intestine
25	chr2:10984200-10984600	Enhancers	Lung	lung
26	chr2:10984200-10984600	Active TSS	Rectal Smooth Muscle	rectum
27	chr2:10984200-10984800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:10984200-10984800	Enhancers	Adipose Nuclei	Adipose
29	chr2:10984200-10984800	Enhancers	Pancreas	Pancrea
30	chr2:10984200-10985400	Active TSS	Colon Smooth Muscle	Colon
31	chr2:10984200-10987000	Active TSS	Right Ventricle	heart
32	chr2:10984200-10987400	Enhancers	Fetal Heart	heart
33	chr2:10984400-10984600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:10984400-10984600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:10984400-10984600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:10984400-10984600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:10984400-10984600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:10984400-10984600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr2:10984400-10984600	Flanking Active TSS	Psoas Muscle	Psoas
40	chr2:10984400-10984600	Enhancers	A549	lung
41	chr2:10984400-10984800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:10984400-10984800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr2:10984400-10984800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr2:10984400-10984800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr2:10984400-10984800	Enhancers	Stomach Mucosa	stomach
46	chr2:10984400-10985800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr2:10984400-10986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:10984400-10986400	Active TSS	Left Ventricle	heart
49	chr2:10984400-10988000	Active TSS	Right Atrium	heart
50	chr2:10984400-10988600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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