Variant report

Variant	rs562981777
Chromosome Location	chr2:99255576-99255577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99251429..99253111-chr2:99254758..99257281,2	K562	blood:
2	chr2:99223154..99226029-chr2:99254910..99257651,3	K562	blood:
3	chr2:99254348..99256553-chr2:99259322..99261027,2	MCF-7	breast:
4	chr2:99224398..99226029-chr2:99255376..99257588,2	K562	blood:

Variant related genes	Relation type
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv582516	chr2:99254031-99304794	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr2:99227200-99257400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:99231200-99286200	Weak transcription	Stomach Mucosa	stomach
3	chr2:99234600-99310600	Weak transcription	Small Intestine	intestine
4	chr2:99234800-99264600	Weak transcription	Ovary	ovary
5	chr2:99234800-99296400	Weak transcription	Esophagus	oesophagus
6	chr2:99235400-99273600	Weak transcription	Fetal Kidney	kidney
7	chr2:99238600-99256000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:99243600-99265800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr2:99244200-99257000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:99244200-99265600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:99244800-99257000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:99244800-99265400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:99245000-99256800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr2:99245000-99268000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:99247200-99256400	Strong transcription	Lung	lung
16	chr2:99247200-99265600	Strong transcription	HepG2	liver
17	chr2:99248600-99255800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:99249800-99261600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:99249800-99265600	Weak transcription	Brain Substantia Nigra	brain
20	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
21	chr2:99250000-99256200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:99251200-99260000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:99251200-99263600	Weak transcription	Placenta	Placenta
24	chr2:99251400-99269000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:99251400-99277800	Weak transcription	Spleen	Spleen
26	chr2:99251400-99295600	Weak transcription	Fetal Stomach	stomach
27	chr2:99251600-99260200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:99251600-99260200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:99251600-99260400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:99251600-99260600	Weak transcription	Right Ventricle	heart
31	chr2:99251600-99264200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:99251600-99264200	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:99251600-99275400	Weak transcription	Gastric	stomach
34	chr2:99251600-99302000	Weak transcription	Brain Angular Gyrus	brain
35	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:99251800-99275600	Weak transcription	Aorta	Aorta
37	chr2:99252200-99271200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:99252600-99256400	Strong transcription	HUVEC	blood vessel
39	chr2:99252600-99257600	Strong transcription	Adipose Nuclei	Adipose
40	chr2:99252800-99255600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:99253200-99256400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr2:99253200-99277400	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:99253200-99293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:99253600-99255600	Strong transcription	Colonic Mucosa	Colon
45	chr2:99253600-99265000	Weak transcription	Brain Anterior Caudate	brain
46	chr2:99254000-99256600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:99254400-99255600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:99254400-99256000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:99254400-99264000	Weak transcription	Thymus	Thymus
50	chr2:99254600-99255600	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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