Variant report

Variant	rs113005648
Chromosome Location	chr2:127446144-127446145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127430249..127432742-chr2:127444629..127446893,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	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	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
5	nsv965826	chr2:127445780-127453618	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3373657	chr2:127446007-127449972	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127424200-127451000	Weak transcription	NHLF	lung
3	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial
5	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:127434000-127446200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
13	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
14	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
15	chr2:127439000-127447600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:127440400-127447400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:127440400-127451200	Weak transcription	Esophagus	oesophagus
19	chr2:127440600-127447400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:127441000-127446200	Weak transcription	HSMMtube	muscle
21	chr2:127441200-127446800	Strong transcription	K562	blood
22	chr2:127442000-127447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:127442000-127456800	Weak transcription	Osteobl	bone
24	chr2:127442400-127447600	Weak transcription	Aorta	Aorta
25	chr2:127443400-127446800	Enhancers	Left Ventricle	heart
26	chr2:127443400-127452600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:127443600-127447600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
29	chr2:127443800-127446400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:127443800-127447600	Weak transcription	Fetal Lung	lung
31	chr2:127443800-127447800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:127443800-127448800	Weak transcription	Thymus	Thymus
33	chr2:127444000-127446800	Enhancers	Psoas Muscle	Psoas
34	chr2:127444000-127446800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:127444000-127447000	Enhancers	Right Ventricle	heart
36	chr2:127444000-127447400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:127444000-127447400	Weak transcription	Ovary	ovary
38	chr2:127444000-127447600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:127444000-127448800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:127444200-127446800	Enhancers	Fetal Muscle Leg	muscle
43	chr2:127444200-127447600	Weak transcription	Spleen	Spleen
44	chr2:127444200-127451400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:127444400-127446800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:127444400-127447000	Enhancers	Adipose Nuclei	Adipose
47	chr2:127444400-127447400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:127444400-127447600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:127444400-127447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:127444400-127449800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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