Variant report

Variant	rs558039066
Chromosome Location	chr2:85854599-85854600
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85852403..85855174-chr2:86219424..86221168,2	K562	blood:
2	chr2:85849589..85852482-chr2:85853069..85855604,3	K562	blood:
3	chr2:85764659..85766250-chr2:85854186..85857174,2	MCF-7	breast:
4	chr2:85843394..85846282-chr2:85852804..85855314,3	K562	blood:
5	chr2:85847247..85848767-chr2:85853795..85856664,2	K562	blood:

Variant related genes	Relation type
ENSG00000168883	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874461	chr2:85853653-85939207	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv874462	chr2:85853653-85941074	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85843800-85876000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:85844800-85858400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:85844800-85862600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:85844800-85881600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:85845000-85876000	Weak transcription	Right Atrium	heart
6	chr2:85845000-85879800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:85845000-85880000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:85845000-85880800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:85845000-85881400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:85845000-85881800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:85845000-85883600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:85845200-85855600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:85845400-85864600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:85845400-85879800	Strong transcription	Lung	lung
15	chr2:85845400-85881000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:85845400-85881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:85845400-85886400	Strong transcription	Fetal Muscle Leg	muscle
18	chr2:85845600-85881800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:85845600-85882200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:85845800-85860800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:85845800-85865000	Strong transcription	NH-A	brain
22	chr2:85845800-85881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:85845800-85881600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:85845800-85881800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:85846000-85856600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:85846000-85856600	Strong transcription	Spleen	Spleen
27	chr2:85846000-85875600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:85846000-85880800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:85846000-85881400	Strong transcription	Fetal Stomach	stomach
30	chr2:85846000-85881400	Strong transcription	Fetal Thymus	thymus
31	chr2:85846000-85887000	Strong transcription	Liver	Liver
32	chr2:85846000-85887400	Strong transcription	Fetal Intestine Small	intestine
33	chr2:85846200-85855600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:85846200-85864200	Strong transcription	Brain Germinal Matrix	brain
35	chr2:85846200-85871600	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:85846200-85874600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:85846200-85874600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:85846200-85875000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:85846200-85875200	Strong transcription	Placenta	Placenta
40	chr2:85846200-85879400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:85846200-85879400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:85846200-85880000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:85846200-85880000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:85846200-85880000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr2:85846200-85880600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:85846200-85881200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:85846200-85881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:85846200-85881400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:85846200-85882000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:85846200-85889400	Strong transcription	Thymus	Thymus

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