Variant report

Variant	rs28387148
Chromosome Location	chr2:127433465-127433466
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	SETDB1	chr2:127432994-127433793	U2OS	brain:	n/a	n/a
2	POLR2A	chr2:127433120-127435557	K562	blood:	n/a	n/a
3	KAP1	chr2:127432945-127434453	K562	blood:	n/a	chr2:127433645-127433653
4	IRF1	chr2:127433243-127433708	K562	blood:	n/a	chr2:127433395-127433409 chr2:127433449-127433463 chr2:127433449-127433459 chr2:127433445-127433459 chr2:127433389-127433403 chr2:127433399-127433409
5	CBX3	chr2:127433109-127433587	K562	blood:	n/a	n/a
6	CBX3	chr2:127432901-127433637	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127430614..127434258-chr2:127435312..127438269,3	K562	blood:
2	chr2:127426020..127428369-chr2:127431324..127434102,4	K562	blood:

Variant related genes	Relation type
ENSG00000235128	TF binding region
ENSG00000235128	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28387111	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28387129	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28387149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28387150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28387153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28387166	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28387167	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4663039	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6741425	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][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:67 , 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	chr2:127427400-127434200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial
8	chr2:127428400-127434400	Weak transcription	Esophagus	oesophagus
9	chr2:127429000-127442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:127429400-127434200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:127430000-127434000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr2:127430400-127434400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:127430400-127436000	Weak transcription	Right Atrium	heart
14	chr2:127430600-127433600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:127430600-127434600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr2:127430800-127444000	Weak transcription	Psoas Muscle	Psoas
17	chr2:127431400-127433600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:127431400-127434000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:127431400-127434400	Weak transcription	Right Ventricle	heart
20	chr2:127431400-127434800	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr2:127431600-127433800	ZNF genes & repeats	Fetal Stomach	stomach
22	chr2:127431600-127436000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:127432000-127433800	ZNF genes & repeats	GM12878-XiMat	blood
24	chr2:127432000-127434000	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr2:127432000-127434800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:127432200-127434000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr2:127432200-127434800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:127432200-127441400	Weak transcription	Fetal Heart	heart
29	chr2:127432400-127433800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr2:127432400-127433800	ZNF genes & repeats	Fetal Thymus	thymus
31	chr2:127432400-127434200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
32	chr2:127432600-127433600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
33	chr2:127432600-127433800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr2:127432600-127433800	ZNF genes & repeats	K562	blood
35	chr2:127432600-127434000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:127432600-127434000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
37	chr2:127432600-127434000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:127432600-127434000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:127432800-127433800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:127432800-127434000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:127432800-127434000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr2:127432800-127434200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr2:127432800-127434200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:127432800-127435200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr2:127432800-127443400	Weak transcription	Thymus	Thymus
46	chr2:127433000-127433600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:127433000-127433800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:127433000-127433800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:127433000-127433800	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr2:127433000-127434000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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