Variant report

Variant	rs558209175
Chromosome Location	chr2:209170148-209170149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209128359..209130743-chr2:209169171..209171063,2	K562	blood:
2	chr2:209166666..209169529-chr2:209169706..209171903,2	K562	blood:
3	chr2:209165926..209168166-chr2:209169181..209171206,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv819526	chr2:209170009-209170540	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209136000-209171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:209139400-209180000	Strong transcription	Fetal Thymus	thymus
3	chr2:209141200-209180000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
5	chr2:209149600-209179800	Strong transcription	Dnd41	blood
6	chr2:209156000-209180000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:209157200-209173600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:209159200-209182200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:209159800-209179400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:209160000-209188800	Weak transcription	Small Intestine	intestine
11	chr2:209162400-209171400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:209162400-209171400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:209162400-209172000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:209162400-209172000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr2:209162400-209174600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:209162600-209171000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:209162600-209171200	Strong transcription	Liver	Liver
18	chr2:209162800-209170800	Strong transcription	HepG2	liver
19	chr2:209162800-209171400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:209162800-209171600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:209162800-209171800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:209162800-209173000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:209163000-209170800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:209163000-209171400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:209163000-209187400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:209163200-209170200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:209163200-209170200	Strong transcription	Brain Hippocampus Middle	brain
28	chr2:209163200-209171200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:209163200-209171400	Strong transcription	Adipose Nuclei	Adipose
30	chr2:209163200-209171400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:209163200-209171400	Strong transcription	HUVEC	blood vessel
32	chr2:209163200-209171600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:209163200-209177000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr2:209163200-209180600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:209163200-209187400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:209163400-209170200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:209163400-209170200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:209163400-209170200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:209163400-209170200	Strong transcription	Brain Anterior Caudate	brain
40	chr2:209163400-209170200	Strong transcription	Brain Cingulate Gyrus	brain
41	chr2:209163400-209170200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:209163400-209170200	Strong transcription	HSMM	muscle
43	chr2:209163400-209170800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:209163400-209171400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:209163400-209171400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:209163400-209171400	Strong transcription	Fetal Lung	lung
47	chr2:209163400-209171800	Strong transcription	Left Ventricle	heart
48	chr2:209163400-209172200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:209163400-209172400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:209163400-209172600	Strong transcription	Placenta	Placenta

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