Variant report

Variant	rs144631623
Chromosome Location	chr2:127434913-127434914
allele	-/AAGA
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	STAT5A	chr2:127434753-127435183	GM12878	blood:	n/a	n/a
2	PBX3	chr2:127434631-127435180	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:127434883-127434932	K562	blood:	n/a	n/a
4	BCL3	chr2:127434589-127435177	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:127433120-127435557	K562	blood:	n/a	n/a
6	NFATC1	chr2:127434562-127435133	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:127434493-127435314	GM12892	blood:	n/a	n/a
8	NFATC1	chr2:127434497-127435296	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:127434583-127435241	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr2:127434400-127434961	K562	blood:	n/a	n/a
11	GATA1	chr2:127433721-127434965	PBDE	blood:	n/a	chr2:127434638-127434646 chr2:127434481-127434491
12	STAT5A	chr2:127434606-127435414	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:127434494-127434986	GM12878	blood:	n/a	n/a
14	BCL3	chr2:127434513-127435247	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127434549..127436811-chr2:127437779..127440229,2	K562	blood:
2	chr2:127433698..127435508-chr2:127441094..127442678,2	K562	blood:

Variant related genes	Relation type
ENSG00000235128	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3417948	chr2:127434894-127435010	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 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	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial
6	chr2:127429000-127442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:127430400-127436000	Weak transcription	Right Atrium	heart
8	chr2:127430800-127444000	Weak transcription	Psoas Muscle	Psoas
9	chr2:127431600-127436000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:127432200-127441400	Weak transcription	Fetal Heart	heart
11	chr2:127432800-127435200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr2:127432800-127443400	Weak transcription	Thymus	Thymus
13	chr2:127433200-127436000	Weak transcription	Aorta	Aorta
14	chr2:127433200-127436000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:127433400-127439400	Weak transcription	Left Ventricle	heart
16	chr2:127433600-127435400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:127433600-127437400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:127433800-127435200	Genic enhancers	Primary T cells from cord blood	blood
20	chr2:127433800-127435800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:127433800-127436000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:127433800-127436600	Weak transcription	Fetal Thymus	thymus
23	chr2:127433800-127437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:127433800-127438200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:127433800-127441000	Weak transcription	GM12878-XiMat	blood
26	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:127434000-127435200	Strong transcription	Primary B cells from cord blood	blood
28	chr2:127434000-127435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:127434000-127436000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:127434000-127436000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:127434000-127436000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:127434000-127436400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:127434000-127441200	Weak transcription	Fetal Lung	lung
34	chr2:127434000-127446200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:127434200-127435000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:127434200-127435000	Enhancers	Spleen	Spleen
39	chr2:127434200-127435200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:127434200-127435200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:127434200-127435200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:127434200-127436200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:127434200-127436800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:127434200-127437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:127434400-127435200	Enhancers	Adipose Nuclei	Adipose
47	chr2:127434400-127435200	Enhancers	Lung	lung
48	chr2:127434400-127445400	Strong transcription	Fetal Stomach	stomach
49	chr2:127434600-127435000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:127434600-127435000	Enhancers	Ovary	ovary

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