Variant report

Variant	rs371840707
Chromosome Location	chr8:103819216-103819217
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103817310..103819555-chr8:144690473..144693447,2	MCF-7	breast:
2	chr15:75746623..75747199-chr8:103819168..103820055,2	Hela-S3	cervix:
3	chr19:8385776..8387962-chr8:103817947..103819696,2	MCF-7	breast:
4	chr8:103817518..103820621-chr8:103884137..103887437,3	MCF-7	breast:
5	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
6	chr22:26878870..26880742-chr8:103818199..103820468,2	MCF-7	breast:
7	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
8	chr8:103667505..103668484-chr8:103818650..103819608,4	MCF-7	breast:
9	chr11:62607921..62609557-chr8:103817365..103819306,2	MCF-7	breast:
10	chr8:103267417..103268998-chr8:103817417..103819784,2	MCF-7	breast:
11	chr3:49058624..49059288-chr8:103818461..103819229,2	Hela-S3	cervix:
12	chr8:103701066..103702596-chr8:103819068..103820617,2	K562	blood:
13	chr8:103666370..103667135-chr8:103818610..103819735,3	MCF-7	breast:
14	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
15	chr8:103816803..103818468-chr8:103818908..103820464,2	K562	blood:
16	chr8:103740249..103747213-chr8:103818698..103822838,8	MCF-7	breast:
17	chr8:101732486..101734553-chr8:103818799..103820944,2	K562	blood:
18	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
19	chr17:56707890..56710691-chr8:103818055..103819767,2	MCF-7	breast:
20	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
21	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
22	chr17:57182576..57184136-chr8:103818187..103820992,2	MCF-7	breast:
23	chr8:103250357..103253420-chr8:103818570..103821747,5	MCF-7	breast:
24	chr8:103667409..103668879-chr8:103818175..103819938,6	MCF-7	breast:
25	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
26	chr8:103818457..103821260-chr9:4985022..4986557,2	MCF-7	breast:
27	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
28	chr8:103801046..103802242-chr8:103819152..103820867,8	MCF-7	breast:
29	chr1:37938067..37940901-chr8:103817766..103821632,3	MCF-7	breast:
30	chr8:103620698..103622905-chr8:103819199..103821152,2	K562	blood:
31	chr8:103251230..103254364-chr8:103817398..103821115,5	K562	blood:
32	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
33	chr8:103600160..103603020-chr8:103819170..103821439,2	K562	blood:
34	chr17:39680970..39683210-chr8:103819163..103820752,2	MCF-7	breast:
35	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
36	chr8:103818007..103820586-chr9:131474498..131476310,2	MCF-7	breast:
37	chr8:102503544..102506939-chr8:103817000..103821587,6	MCF-7	breast:
38	chr12:65218457..65219292-chr8:103819159..103819916,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000070756	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000267855	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000104524	Chromatin interaction
ENSG00000233927	Chromatin interaction
ENSG00000100104	Chromatin interaction
ENSG00000160447	Chromatin interaction
ENSG00000272037	Chromatin interaction
ENSG00000171345	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000100099	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000167774	Chromatin interaction
ENSG00000096968	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000250684	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000163874	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3387271	chr8:103818001-103820749	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103809600-103819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:103816800-103822400	Enhancers	Spleen	Spleen
3	chr8:103817200-103822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:103818200-103819800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:103818200-103820200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:103818200-103821200	Enhancers	Fetal Brain Male	brain
7	chr8:103818400-103819400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:103818400-103819400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:103818400-103819400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr8:103818400-103819400	Active TSS	Fetal Brain Female	brain
11	chr8:103818400-103819400	Weak transcription	Lung	lung
12	chr8:103818400-103819400	Active TSS	HSMMtube	muscle
13	chr8:103818400-103819600	Active TSS	Colon Smooth Muscle	Colon
14	chr8:103818400-103819600	Weak transcription	Gastric	stomach
15	chr8:103818400-103819600	Active TSS	Psoas Muscle	Psoas
16	chr8:103818600-103819400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr8:103818600-103819400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:103818600-103819400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:103818600-103819400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:103818600-103819400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:103818600-103819400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr8:103818600-103819400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:103818600-103819400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:103818600-103819400	Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr8:103818600-103819400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr8:103818600-103819400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:103818600-103819400	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr8:103818600-103819400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr8:103818600-103819400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:103818600-103819400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:103818600-103819400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:103818600-103819400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:103818600-103819400	Active TSS	Adipose Nuclei	Adipose
34	chr8:103818600-103819400	Active TSS	Liver	Liver
35	chr8:103818600-103819400	Active TSS	Brain Germinal Matrix	brain
36	chr8:103818600-103819400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr8:103818600-103819400	Active TSS	Duodenum Mucosa	Duodenum
38	chr8:103818600-103819400	Active TSS	Fetal Intestine Large	intestine
39	chr8:103818600-103819400	Active TSS	Fetal Intestine Small	intestine
40	chr8:103818600-103819400	Weak transcription	Fetal Kidney	kidney
41	chr8:103818600-103819400	Active TSS	Left Ventricle	heart
42	chr8:103818600-103819400	Active TSS	Pancreas	Pancrea
43	chr8:103818600-103819400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr8:103818600-103819400	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr8:103818600-103819400	Active TSS	Rectal Smooth Muscle	rectum
46	chr8:103818600-103819400	Active TSS	Right Ventricle	heart
47	chr8:103818600-103819400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr8:103818600-103819400	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr8:103818600-103819400	Active TSS	Small Intestine	intestine
50	chr8:103818600-103819400	Active TSS	Thymus	Thymus

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