Variant report

Variant	rs386648418
Chromosome Location	chr2:98272680-98272681
allele	GC/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	esv2756939	chr2:97708611-98274527	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv2763630	chr2:97731133-98279050	Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv431413	chr2:97753585-98274527	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1001249	chr2:97972600-98274527	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1005846	chr2:97972600-98281634	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv1010167	chr2:98013814-98273619	Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv999627	chr2:98013814-98274527	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv1009263	chr2:98013814-98281634	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv582512	chr2:98272634-98277804	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	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	chr2:98264600-98277400	Weak transcription	Right Atrium	heart
2	chr2:98265200-98272800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:98265200-98276800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:98265200-98277200	Weak transcription	HUVEC	blood vessel
5	chr2:98265400-98273600	Weak transcription	Hela-S3	cervix
6	chr2:98265600-98274400	Weak transcription	Psoas Muscle	Psoas
7	chr2:98265600-98277600	Weak transcription	Small Intestine	intestine
8	chr2:98265600-98277800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:98265800-98277200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:98266000-98272800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:98266000-98272800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:98266000-98273000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:98266200-98272800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:98266400-98273000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:98266600-98272800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:98266600-98272800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:98266600-98272800	Weak transcription	GM12878-XiMat	blood
18	chr2:98266600-98273400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:98266600-98277200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:98267600-98272800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:98267600-98273000	Weak transcription	HMEC	breast
22	chr2:98269000-98275200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:98270000-98275600	Strong transcription	Primary B cells from cord blood	blood
24	chr2:98270000-98275600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr2:98270200-98275800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr2:98270200-98276800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:98270200-98277200	Strong transcription	Brain Cingulate Gyrus	brain
28	chr2:98270400-98275400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:98270400-98277200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:98270400-98278200	Strong transcription	Primary T cells from cord blood	blood
31	chr2:98270400-98278200	Weak transcription	Stomach Mucosa	stomach
32	chr2:98270600-98277000	Strong transcription	Osteobl	bone
33	chr2:98270600-98277400	Strong transcription	Dnd41	blood
34	chr2:98270600-98277600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:98270600-98277800	Strong transcription	Thymus	Thymus
36	chr2:98270800-98273600	Strong transcription	Gastric	stomach
37	chr2:98270800-98276000	Strong transcription	Pancreas	Pancrea
38	chr2:98270800-98276400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:98270800-98276400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:98270800-98276800	Strong transcription	Right Ventricle	heart
41	chr2:98270800-98277400	Strong transcription	Rectal Smooth Muscle	rectum
42	chr2:98271000-98275400	Strong transcription	NHDF-Ad	bronchial
43	chr2:98271000-98275800	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:98271000-98276800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:98271000-98277200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:98271000-98278000	Weak transcription	Fetal Brain Male	brain
47	chr2:98271200-98272800	Weak transcription	Brain Anterior Caudate	brain
48	chr2:98271200-98273600	Weak transcription	HSMMtube	muscle
49	chr2:98271200-98275200	Weak transcription	Fetal Heart	heart
50	chr2:98271200-98275800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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