Variant report

Variant	rs200175226
Chromosome Location	chr2:233791847-233791848
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	chr2:233757939..233760469-chr2:233789148..233791862,2	K562	blood:
2	chr2:233757939..233761647-chr2:233789148..233791862,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1014548	chr2:233777859-233816018	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv518226	chr2:233790447-233793517	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3376153	chr2:233791333-233794081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233785000-233792000	Weak transcription	Gastric	stomach
2	chr2:233789800-233792000	Bivalent Enhancer	Fetal Intestine Large	intestine
3	chr2:233789800-233792400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr2:233789800-233793200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr2:233790000-233792000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr2:233790000-233792200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
7	chr2:233790200-233792000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:233790400-233792200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr2:233790400-233792400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr2:233790600-233792400	Bivalent Enhancer	Placenta	Placenta
11	chr2:233791000-233792400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
12	chr2:233791000-233792400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr2:233791000-233792600	Bivalent Enhancer	Fetal Brain Male	brain
14	chr2:233791200-233792000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
15	chr2:233791200-233792000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr2:233791200-233792000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:233791200-233792000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:233791200-233792200	Bivalent Enhancer	Small Intestine	intestine
19	chr2:233791200-233792400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr2:233791200-233792400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
21	chr2:233791200-233792800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr2:233791200-233793400	Bivalent/Poised TSS	NHLF	lung
23	chr2:233791200-233793800	Bivalent Enhancer	Spleen	Spleen
24	chr2:233791400-233792000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:233791400-233792000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr2:233791400-233792000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:233791400-233792000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
28	chr2:233791400-233792000	Flanking Active TSS	HSMM	muscle
29	chr2:233791400-233792200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:233791400-233792200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr2:233791400-233792200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:233791400-233792200	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr2:233791400-233792200	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr2:233791400-233792600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:233791400-233793000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr2:233791400-233793200	Weak transcription	Liver	Liver
37	chr2:233791400-233793600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:233791400-233793600	Bivalent Enhancer	Lung	lung
39	chr2:233791400-233794200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr2:233791600-233792000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:233791600-233792000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
42	chr2:233791600-233792000	Bivalent Enhancer	Primary T cells from cord blood	blood
43	chr2:233791600-233792000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:233791600-233792000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:233791600-233792000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr2:233791600-233792000	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr2:233791600-233792000	Bivalent Enhancer	Colonic Mucosa	Colon
48	chr2:233791600-233792000	Active TSS	Right Atrium	heart
49	chr2:233791600-233792200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr2:233791600-233792200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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