Variant report

Variant	rs10174791
Chromosome Location	chr2:10437671-10437672
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	MAZ	chr2:10437642-10438833	IMR90	lung:	n/a	n/a
2	RCOR1	chr2:10437395-10439303	IMR90	lung:	n/a	n/a
3	NR3C1	chr2:10437412-10437939	A549	lung:	n/a	n/a
4	TBP	chr2:10437667-10437807	K562	blood:	n/a	n/a
5	MXI1	chr2:10437472-10439115	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr2:10437665-10438395	A549	lung:	n/a	n/a
7	JUND	chr2:10437148-10438905	SK-N-SH	brain:	n/a	chr2:10438159-10438170 chr2:10438163-10438171
8	CEBPB	chr2:10437611-10438385	HepG2	liver:	n/a	n/a
9	FOSL2	chr2:10437667-10438533	A549	lung:	n/a	chr2:10438159-10438170 chr2:10438163-10438171 chr2:10438162-10438173
10	CEBPB	chr2:10437577-10438429	IMR90	lung:	n/a	n/a
11	MAZ	chr2:10437662-10437709	Hela-S3	cervix:	n/a	n/a
12	EP300	chr2:10437422-10439314	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10437138..10439470-chr2:10586145..10589513,3	K562	blood:
2	chr2:10425416..10427502-chr2:10437383..10439645,2	K562	blood:
3	chr2:10409808..10412548-chr2:10436886..10439745,2	K562	blood:
4	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
5	chr2:10436760..10438833-chr2:10575893..10578796,2	K562	blood:
6	chr2:10436642..10438745-chr2:10547775..10550649,2	K562	blood:

Variant related genes	Relation type
ENSG00000206898	TF binding region
ENSG00000115756	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10167820	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1574463	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725658	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6734800	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749349	0.93[AMR][1000 genomes];1.00[EUR][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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv19004	chr2:10433505-10439183	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10426200-10438000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:10435200-10438200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:10435200-10438800	Enhancers	Placenta	Placenta
4	chr2:10435400-10438600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:10435600-10437800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:10435800-10437800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:10435800-10441000	Weak transcription	Stomach Mucosa	stomach
8	chr2:10436000-10442000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:10436600-10437800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:10436600-10438600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:10436600-10442200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:10436800-10437800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:10436800-10437800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:10437000-10438800	Enhancers	Fetal Thymus	thymus
15	chr2:10437000-10439000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:10437200-10438200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:10437200-10438800	Enhancers	K562	blood
18	chr2:10437400-10437800	Enhancers	A549	lung
19	chr2:10437400-10438000	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:10437400-10438200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:10437400-10438200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:10437400-10438200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:10437400-10438200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:10437400-10438200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:10437400-10438600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:10437400-10438600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:10437400-10438600	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:10437400-10438600	Enhancers	Lung	lung
29	chr2:10437400-10438800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:10437400-10438800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr2:10437400-10438800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:10437400-10438800	Enhancers	HMEC	breast
33	chr2:10437400-10439000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:10437400-10439000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:10437400-10439000	Enhancers	Hela-S3	cervix
36	chr2:10437400-10439600	Enhancers	Primary B cells from cord blood	blood
37	chr2:10437600-10437800	Enhancers	Spleen	Spleen
38	chr2:10437600-10438000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:10437600-10438200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:10437600-10438200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:10437600-10438200	Enhancers	HSMM	muscle
42	chr2:10437600-10438400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:10437600-10438400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:10437600-10438400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:10437600-10438600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:10437600-10438600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:10437600-10438600	Enhancers	Adipose Nuclei	Adipose
48	chr2:10437600-10438600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr2:10437600-10438600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:10437600-10438800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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