Variant report

Variant	rs555758978
Chromosome Location	chr2:99254379-99254380
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	chr2:99254348..99256553-chr2:99259322..99261027,2	MCF-7	breast:

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:75 , 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	chr2:99247200-99254600	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:99247200-99256400	Strong transcription	Lung	lung
17	chr2:99247200-99265600	Strong transcription	HepG2	liver
18	chr2:99247600-99254400	Strong transcription	Left Ventricle	heart
19	chr2:99248600-99255800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:99248800-99254600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:99248800-99254600	Strong transcription	Liver	Liver
22	chr2:99249800-99261600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:99249800-99265600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:99249800-99318000	Weak transcription	Psoas Muscle	Psoas
25	chr2:99250000-99256200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr2:99251200-99260000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:99251200-99263600	Weak transcription	Placenta	Placenta
28	chr2:99251400-99269000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:99251400-99277800	Weak transcription	Spleen	Spleen
30	chr2:99251400-99295600	Weak transcription	Fetal Stomach	stomach
31	chr2:99251600-99254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:99251600-99255200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:99251600-99255400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:99251600-99260200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:99251600-99260200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:99251600-99260400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:99251600-99260600	Weak transcription	Right Ventricle	heart
38	chr2:99251600-99264200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:99251600-99264200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:99251600-99275400	Weak transcription	Gastric	stomach
41	chr2:99251600-99302000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:99251600-99306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:99251800-99275600	Weak transcription	Aorta	Aorta
44	chr2:99252200-99271200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:99252600-99254600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr2:99252600-99256400	Strong transcription	HUVEC	blood vessel
47	chr2:99252600-99257600	Strong transcription	Adipose Nuclei	Adipose
48	chr2:99252800-99255600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:99253000-99254800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:99253200-99254600	Strong transcription	Pancreas	Pancrea

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