Variant report

Variant	rs12999519
Chromosome Location	chr2:127434324-127434325
allele	A/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	ELF1	chr2:127434282-127434753	K562	blood:	n/a	n/a
2	TAL1	chr2:127434299-127434876	K562	blood:	n/a	n/a
3	POLR2A	chr2:127433120-127435557	K562	blood:	n/a	n/a
4	KAP1	chr2:127432945-127434453	K562	blood:	n/a	chr2:127433645-127433653
5	NR2F2	chr2:127434304-127434843	K562	blood:	n/a	n/a
6	GATA1	chr2:127433721-127434965	PBDE	blood:	n/a	chr2:127434638-127434646 chr2:127434481-127434491
7	TEAD4	chr2:127434309-127434783	K562	blood:	n/a	chr2:127434752-127434761

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127433698..127435508-chr2:127441094..127442678,2	K562	blood:

Variant related genes	Relation type
ENSG00000235128	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12990356	0.88[EUR][1000 genomes]
rs13002529	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006171	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011769	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025872	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034269	0.86[EUR][1000 genomes]
rs28369983	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1813823	chr2:127417657-127441005	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv875007	chr2:127426697-127454230	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv875008	chr2:127426754-127436469	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3325322	chr2:127432782-127437080	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
3	chr2:127424200-127451000	Weak transcription	NHLF	lung
4	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:127427000-127434600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial
7	chr2:127428400-127434400	Weak transcription	Esophagus	oesophagus
8	chr2:127429000-127442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:127430400-127434400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:127430400-127436000	Weak transcription	Right Atrium	heart
11	chr2:127430600-127434600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
12	chr2:127430800-127444000	Weak transcription	Psoas Muscle	Psoas
13	chr2:127431400-127434400	Weak transcription	Right Ventricle	heart
14	chr2:127431400-127434800	ZNF genes & repeats	Fetal Muscle Leg	muscle
15	chr2:127431600-127436000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:127432000-127434800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:127432200-127434800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:127432200-127441400	Weak transcription	Fetal Heart	heart
19	chr2:127432800-127435200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr2:127432800-127443400	Weak transcription	Thymus	Thymus
21	chr2:127433200-127434400	Weak transcription	Lung	lung
22	chr2:127433200-127434600	Weak transcription	Ovary	ovary
23	chr2:127433200-127436000	Weak transcription	Aorta	Aorta
24	chr2:127433200-127436000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:127433400-127434400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:127433400-127434400	Weak transcription	Adipose Nuclei	Adipose
27	chr2:127433400-127439400	Weak transcription	Left Ventricle	heart
28	chr2:127433600-127434600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:127433600-127434800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:127433600-127435400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:127433600-127437400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:127433800-127434400	Weak transcription	Fetal Stomach	stomach
34	chr2:127433800-127434600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:127433800-127434600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:127433800-127434800	Transcr. at gene 5' and 3'	K562	blood
37	chr2:127433800-127435200	Genic enhancers	Primary T cells from cord blood	blood
38	chr2:127433800-127435800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:127433800-127436000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:127433800-127436600	Weak transcription	Fetal Thymus	thymus
41	chr2:127433800-127437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:127433800-127438200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:127433800-127441000	Weak transcription	GM12878-XiMat	blood
44	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:127434000-127434400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:127434000-127434600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:127434000-127434800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr2:127434000-127435200	Strong transcription	Primary B cells from cord blood	blood
49	chr2:127434000-127435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr2:127434000-127436000	Enhancers	Primary T helper cells PMA-I stimulated	--

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