Variant report

Variant	rs375554228
Chromosome Location	chr8:48194126-48194127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv1023786	chr8:48163412-48235252	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1031331	chr8:48163412-48239160	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1032993	chr8:48167423-48246277	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1030486	chr8:48167423-48247297	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv3431203	chr8:48188989-48211147	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3360188	chr8:48188989-48215097	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv3419933	chr8:48188989-48215347	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48174200-48198400	Weak transcription	Spleen	Spleen
2	chr8:48174200-48199000	Weak transcription	Esophagus	oesophagus
3	chr8:48174200-48203800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:48174400-48197400	Weak transcription	Right Atrium	heart
5	chr8:48174600-48195800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:48174600-48198200	Weak transcription	Liver	Liver
7	chr8:48174800-48197200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:48174800-48198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:48175200-48197000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:48175200-48197800	Weak transcription	Hela-S3	cervix
11	chr8:48175200-48198800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:48175400-48203600	Weak transcription	NHLF	lung
13	chr8:48182600-48198200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:48182800-48194400	Weak transcription	A549	lung
15	chr8:48183000-48204200	Weak transcription	HepG2	liver
16	chr8:48183200-48198400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:48183200-48198600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:48183200-48227800	Weak transcription	Stomach Mucosa	stomach
19	chr8:48183800-48196200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:48183800-48196800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:48183800-48203600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:48186600-48198200	Weak transcription	Gastric	stomach
23	chr8:48186600-48198400	Weak transcription	Brain Germinal Matrix	brain
24	chr8:48188800-48197200	Weak transcription	Pancreas	Pancrea
25	chr8:48189400-48196000	Weak transcription	NHDF-Ad	bronchial
26	chr8:48189400-48196800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:48189400-48197000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:48189400-48198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:48189400-48204000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:48189600-48225000	Weak transcription	HUVEC	blood vessel
31	chr8:48190200-48197000	Weak transcription	Adipose Nuclei	Adipose
32	chr8:48190400-48197800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:48190400-48198000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:48190600-48197200	Weak transcription	Brain Angular Gyrus	brain
35	chr8:48190600-48198800	Weak transcription	K562	blood
36	chr8:48191000-48197400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:48191000-48198200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:48191400-48197200	Weak transcription	Ovary	ovary
39	chr8:48191400-48216600	Weak transcription	Colonic Mucosa	Colon
40	chr8:48191600-48197600	Weak transcription	Fetal Brain Female	brain
41	chr8:48191600-48198200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:48191600-48203600	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:48191800-48194600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr8:48191800-48198400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr8:48191800-48198600	Strong transcription	Dnd41	blood
46	chr8:48191800-48198800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:48192000-48194600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:48192000-48194600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:48192000-48194800	Strong transcription	Primary B cells from peripheral blood	blood
50	chr8:48192000-48196600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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