Variant report

Variant	rs73914105
Chromosome Location	chr2:10726802-10726803
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	SPI1	chr2:10726647-10726981	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10726638..10728292-chr2:10728374..10731132,2	MCF-7	breast:
2	chr2:10720734..10723680-chr2:10724490..10727001,3	K562	blood:
3	chr2:10724831..10728793-chr2:10731457..10735556,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234818	TF binding region
ENSG00000234818	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11694237	1.00[AMR][1000 genomes]
rs1641134	1.00[AMR][1000 genomes]
rs1728145	1.00[AMR][1000 genomes]
rs1728146	1.00[AMR][1000 genomes]
rs1728162	1.00[AMR][1000 genomes]
rs58775214	1.00[AMR][1000 genomes]
rs73914094	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10698600-10736600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10705800-10736000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr2:10707400-10728800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:10708600-10727000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:10708600-10732000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:10708800-10732800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:10709200-10746800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:10709400-10732600	Strong transcription	Primary B cells from cord blood	blood
9	chr2:10712600-10742000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:10713200-10727800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:10717000-10728800	Weak transcription	Colonic Mucosa	Colon
12	chr2:10717600-10732400	Weak transcription	Fetal Brain Male	brain
13	chr2:10717800-10727600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:10717800-10729000	Weak transcription	Small Intestine	intestine
15	chr2:10718000-10732000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:10719400-10729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:10719800-10746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:10720000-10746400	Strong transcription	Dnd41	blood
19	chr2:10720200-10728400	Weak transcription	Psoas Muscle	Psoas
20	chr2:10720400-10728400	Weak transcription	Fetal Lung	lung
21	chr2:10720400-10740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:10720800-10739200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:10721000-10728800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:10721000-10729000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:10721000-10755000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:10721200-10734600	Strong transcription	GM12878-XiMat	blood
27	chr2:10721200-10746800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:10721400-10727800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:10721400-10731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:10721400-10735800	Strong transcription	Primary T cells from cord blood	blood
31	chr2:10721600-10731800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:10721600-10735600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:10721800-10727800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:10721800-10728000	Weak transcription	Brain Angular Gyrus	brain
35	chr2:10722000-10728600	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:10722000-10735200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:10722000-10738200	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:10722400-10734800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:10722400-10735200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:10722800-10731400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:10722800-10732400	Strong transcription	Fetal Thymus	thymus
42	chr2:10722800-10741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:10723000-10728600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:10723600-10728600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:10723800-10729800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:10724000-10735600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:10724200-10730800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:10724400-10727600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:10724400-10727800	Weak transcription	Lung	lung
50	chr2:10724400-10728000	Weak transcription	Brain Hippocampus Middle	brain

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