Variant report

Variant	rs554091996
Chromosome Location	chr2:100938975-100938976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100937836..100939384-chr2:100985447..100988278,2	K562	blood:
2	chr2:100877863..100879986-chr2:100936694..100939073,4	MCF-7	breast:
3	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
4	chr2:100908492..100909141-chr2:100938432..100939141,2	MCF-7	breast:
5	chr2:100924962..100929082-chr2:100936842..100940898,4	K562	blood:
6	chr2:100920038..100923906-chr2:100937053..100939083,4	MCF-7	breast:
7	chr2:100936794..100939483-chr2:101033248..101035645,2	K562	blood:
8	chr2:100937545..100939086-chr2:100943164..100946090,2	K562	blood:
9	chr2:100936567..100938994-chr2:101033479..101035726,2	MCF-7	breast:
10	chr2:100924962..100929454-chr2:100936842..100940898,4	K562	blood:
11	chr2:100937085..100941836-chr2:101033510..101036438,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction
ENSG00000115526	Chromatin interaction
ENSG00000269383	Chromatin interaction
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2753837	chr2:100928086-100955814	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3323401	chr2:100935920-100940518	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3359521	chr2:100937345-100939893	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3501611	chr2:100937370-100939668	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3501612	chr2:100937370-100939668	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100935800-100939400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr2:100936000-100939400	Active TSS	A549	lung
3	chr2:100936800-100939400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:100937000-100939200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:100937000-100939400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:100937000-100939400	Active TSS	Ovary	ovary
7	chr2:100937000-100939400	Active TSS	Stomach Smooth Muscle	stomach
8	chr2:100937200-100939000	Active TSS	Left Ventricle	heart
9	chr2:100937200-100939000	Active TSS	Rectal Smooth Muscle	rectum
10	chr2:100937200-100939200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:100937200-100939200	Active TSS	Brain Hippocampus Middle	brain
12	chr2:100937200-100939200	Flanking Bivalent TSS/Enh	Lung	lung
13	chr2:100937200-100939400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:100937200-100939400	Active TSS	Brain Anterior Caudate	brain
15	chr2:100937200-100939400	Active TSS	Right Atrium	heart
16	chr2:100937400-100939200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr2:100937400-100939200	Active TSS	Gastric	stomach
18	chr2:100937400-100939400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:100937400-100939400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:100937400-100939400	Active TSS	Brain Angular Gyrus	brain
21	chr2:100937400-100939400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr2:100937600-100939000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr2:100937600-100939000	Active TSS	K562	blood
24	chr2:100937600-100939200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:100937600-100939200	Active TSS	Aorta	Aorta
26	chr2:100937600-100939200	Active TSS	Brain Substantia Nigra	brain
27	chr2:100937600-100939200	Active TSS	Colon Smooth Muscle	Colon
28	chr2:100937600-100939400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr2:100937600-100939400	Active TSS	Brain Cingulate Gyrus	brain
30	chr2:100937800-100939000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr2:100937800-100939000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:100937800-100939000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:100937800-100939000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr2:100937800-100939000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr2:100937800-100939000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr2:100937800-100939000	Bivalent/Poised TSS	Fetal Stomach	stomach
37	chr2:100937800-100939200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:100937800-100939200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:100937800-100939200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:100937800-100939200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:100937800-100939200	Bivalent/Poised TSS	HSMMtube	muscle
42	chr2:100937800-100939400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:100937800-100939400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:100937800-100939400	Active TSS	Brain Germinal Matrix	brain
45	chr2:100937800-100939400	Active TSS	Pancreas	Pancrea
46	chr2:100937800-100939600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:100937800-100939600	Active TSS	Fetal Brain Female	brain
48	chr2:100938000-100939000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:100938000-100939000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:100938000-100939000	Bivalent/Poised TSS	HSMM	muscle

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