Variant report

Variant	rs540147550
Chromosome Location	chr2:190636850-190636851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190625930..190630327-chr2:190630673..190638393,9	K562	blood:
2	chr2:190634458..190636965-chr2:190638954..190642659,3	MCF-7	breast:
3	chr2:190634845..190637488-chr2:190645702..190648175,2	K562	blood:
4	chr2:190632138..190639565-chr2:190646675..190650810,8	K562	blood:
5	chr2:190631446..190641228-chr2:190647618..190650786,10	MCF-7	breast:
6	chr2:190636758..190640017-chr2:190647080..190650145,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128699	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000253559	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000064933	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3458869	chr2:190636538-190640342	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
2	esv3458870	chr2:190636538-190640342	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190627800-190642800	Weak transcription	Spleen	Spleen
2	chr2:190627800-190648200	Weak transcription	Gastric	stomach
3	chr2:190628200-190638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:190628200-190638000	Weak transcription	Right Ventricle	heart
5	chr2:190628200-190638400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:190628200-190638600	Weak transcription	Colonic Mucosa	Colon
7	chr2:190628200-190642800	Weak transcription	Lung	lung
8	chr2:190628200-190643200	Weak transcription	Esophagus	oesophagus
9	chr2:190628200-190645600	Weak transcription	Pancreas	Pancrea
10	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:190628400-190642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:190628600-190637200	Weak transcription	Fetal Kidney	kidney
16	chr2:190628600-190637600	Weak transcription	Fetal Brain Female	brain
17	chr2:190628600-190638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:190628600-190638800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:190628600-190642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:190628600-190642800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:190628600-190642800	Weak transcription	Thymus	Thymus
22	chr2:190628600-190647000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:190628600-190647200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:190628600-190647200	Weak transcription	Stomach Mucosa	stomach
25	chr2:190628600-190648400	Weak transcription	Small Intestine	intestine
26	chr2:190628800-190638000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:190628800-190638600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:190628800-190638800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:190628800-190639200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:190628800-190642800	Weak transcription	Fetal Stomach	stomach
31	chr2:190629000-190638000	Weak transcription	Brain Substantia Nigra	brain
32	chr2:190629000-190638600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:190629000-190644200	Weak transcription	Fetal Brain Male	brain
34	chr2:190629000-190647200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:190629200-190638000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:190629200-190639400	Weak transcription	Hela-S3	cervix
37	chr2:190629400-190637800	Weak transcription	NHLF	lung
38	chr2:190629800-190647000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:190630000-190646600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:190630800-190647000	Strong transcription	HSMM	muscle
41	chr2:190631000-190637000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:190631000-190646200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:190631200-190645400	Strong transcription	Liver	Liver
44	chr2:190631200-190646200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:190631200-190647200	Strong transcription	Fetal Thymus	thymus
46	chr2:190631400-190642200	Strong transcription	NHDF-Ad	bronchial
47	chr2:190631400-190644000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:190631400-190646000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:190631400-190646000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:190631400-190646800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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