Variant report

Variant	rs587749110
Chromosome Location	chr8:48190723-48190724
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	chr8:48185622..48188610-chr8:48189988..48193605,3	K562	blood:
2	chr8:48172897..48175307-chr8:48189146..48191153,2	K562	blood:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

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:96 , 50 per page) page: 1 2

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	chr8:48174400-48192000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:48174400-48197400	Weak transcription	Right Atrium	heart
6	chr8:48174600-48193200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:48174600-48193400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:48174600-48195800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:48174600-48198200	Weak transcription	Liver	Liver
10	chr8:48174800-48197200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:48174800-48198200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:48175200-48191800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:48175200-48193400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:48175200-48197000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:48175200-48197800	Weak transcription	Hela-S3	cervix
16	chr8:48175200-48198800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:48175400-48193000	Weak transcription	Left Ventricle	heart
18	chr8:48175400-48193400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:48175400-48193600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:48175400-48203600	Weak transcription	NHLF	lung
21	chr8:48176000-48191800	Weak transcription	Dnd41	blood
22	chr8:48181000-48192000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:48182600-48198200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:48182800-48194400	Weak transcription	A549	lung
25	chr8:48183000-48204200	Weak transcription	HepG2	liver
26	chr8:48183200-48198400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:48183200-48198600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:48183200-48227800	Weak transcription	Stomach Mucosa	stomach
29	chr8:48183400-48193600	Weak transcription	Primary B cells from cord blood	blood
30	chr8:48183800-48196200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:48183800-48196800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr8:48183800-48203600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:48184000-48192200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:48184000-48193200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:48184400-48192000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:48184800-48191800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:48184800-48193200	Weak transcription	Fetal Intestine Large	intestine
38	chr8:48185200-48192600	Weak transcription	Fetal Lung	lung
39	chr8:48185800-48193200	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:48186000-48192000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:48186400-48191800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:48186400-48192000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:48186400-48192000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:48186400-48192800	Weak transcription	Lung	lung
45	chr8:48186600-48192000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:48186600-48192200	Weak transcription	Fetal Intestine Small	intestine
47	chr8:48186600-48193200	Weak transcription	Primary T cells from cord blood	blood
48	chr8:48186600-48198200	Weak transcription	Gastric	stomach
49	chr8:48186600-48198400	Weak transcription	Brain Germinal Matrix	brain
50	chr8:48186800-48193000	Weak transcription	Aorta	Aorta

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