Variant report

Variant	rs533513008
Chromosome Location	chr8:103822990-103822991
allele	A/G
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:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:103681131..103683313-chr8:103821848..103824380,2	MCF-7	breast:
2	chr8:103602171..103604876-chr8:103822543..103824319,2	K562	blood:
3	chr8:103596405..103599934-chr8:103821942..103825203,3	MCF-7	breast:
4	chr8:103241583..103244347-chr8:103821474..103823149,2	K562	blood:
5	chr8:103665035..103666995-chr8:103822531..103823783,6	K562	blood:
6	chr8:103612475..103613967-chr8:103822902..103824162,4	MCF-7	breast:
7	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
8	chr14:73525108..73526850-chr8:103822146..103823789,2	MCF-7	breast:
9	chr8:103663750..103664726-chr8:103822777..103823778,9	MCF-7	breast:
10	chr8:103638288..103640009-chr8:103821096..103823943,2	MCF-7	breast:
11	chr8:103639335..103640286-chr8:103822929..103823765,4	MCF-7	breast:
12	chr2:208036628..208038227-chr8:103821517..103823271,2	MCF-7	breast:
13	chr8:103663361..103664632-chr8:103822267..103823755,10	MCF-7	breast:
14	chr8:103665446..103666548-chr8:103822796..103823768,4	MCF-7	breast:
15	chr8:103728869..103730949-chr8:103820340..103823063,2	MCF-7	breast:
16	chr8:103612874..103613451-chr8:103822619..103823333,2	MCF-7	breast:
17	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
18	chr8:103742324..103745222-chr8:103822758..103824576,2	K562	blood:
19	chr8:103667025..103668992-chr8:103822765..103823586,9	MCF-7	breast:
20	chr8:103596964..103598565-chr8:103822349..103823714,7	MCF-7	breast:
21	chr8:103665794..103666765-chr8:103822627..103823731,3	MCF-7	breast:
22	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
23	chr8:103693070..103695216-chr8:103822636..103825245,2	K562	blood:
24	chr10:107297880..107298668-chr8:103822352..103823075,2	MCF-7	breast:
25	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
26	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
27	chr8:102504262..102506500-chr8:103822604..103825982,3	MCF-7	breast:
28	chr8:103643403..103646605-chr8:103821191..103823533,3	MCF-7	breast:
29	chr8:103801177..103801753-chr8:103822678..103823503,2	MCF-7	breast:
30	chr8:103597261..103598173-chr8:103822316..103823433,4	MCF-7	breast:
31	chr8:103732314..103735050-chr8:103822307..103824951,2	MCF-7	breast:
32	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
33	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
34	chr8:103663739..103664942-chr8:103822777..103823773,7	K562	blood:
35	chr8:103249572..103251193-chr8:103822778..103825686,2	K562	blood:
36	chr8:103248364..103250740-chr8:103821721..103824052,2	MCF-7	breast:
37	chr8:103822430..103824657-chr8:104048690..104050803,2	MCF-7	breast:
38	chr8:103520610..103522494-chr8:103820924..103823364,2	MCF-7	breast:
39	chr8:103626178..103629397-chr8:103820874..103826100,7	MCF-7	breast:
40	chr8:103740987..103747065-chr8:103820578..103824576,6	K562	blood:
41	chr8:103665570..103666349-chr8:103822679..103823550,2	MCF-7	breast:
42	chr8:103601837..103604958-chr8:103822153..103824319,4	K562	blood:
43	chr8:103639519..103640281-chr8:103822930..103823782,4	MCF-7	breast:
44	chr8:103703111..103704923-chr8:103821705..103823868,2	K562	blood:
45	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
46	chr8:103666345..103667557-chr8:103822272..103823530,3	MCF-7	breast:
47	chr8:103739412..103741779-chr8:103821663..103824081,2	MCF-7	breast:
48	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
49	chr8:103422161..103424073-chr8:103822681..103825599,2	MCF-7	breast:
50	chr8:103249693..103252813-chr8:103822764..103825686,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000119707	Chromatin interaction
ENSG00000258813	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000266799	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	esv3402705	chr8:103821801-103824349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	12 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	chr8:103819800-103823000	Enhancers	Fetal Heart	heart
2	chr8:103819800-103823400	Enhancers	Stomach Mucosa	stomach
3	chr8:103819800-103823800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:103820200-103823000	Enhancers	Brain Substantia Nigra	brain
5	chr8:103821400-103823200	Weak transcription	Fetal Kidney	kidney
6	chr8:103821600-103826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:103822000-103823200	Active TSS	HepG2	liver
8	chr8:103822200-103823000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:103822200-103823400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:103822200-103823800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:103822400-103823000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:103822400-103823000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:103822400-103823000	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr8:103822400-103823000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr8:103822400-103823000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr8:103822400-103823000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr8:103822400-103823000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:103822400-103823000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr8:103822400-103823000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:103822400-103823000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr8:103822400-103823000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:103822400-103823000	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr8:103822400-103823000	Active TSS	Small Intestine	intestine
24	chr8:103822400-103823200	Active TSS	Aorta	Aorta
25	chr8:103822400-103823200	Active TSS	Right Ventricle	heart
26	chr8:103822400-103823400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:103822400-103823400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:103822400-103823400	Active TSS	Brain Anterior Caudate	brain
29	chr8:103822400-103823400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr8:103822400-103823400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:103822400-103823600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr8:103822400-103823800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr8:103822400-103823800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:103822400-103824200	Flanking Active TSS	Dnd41	blood
35	chr8:103822600-103823000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:103822600-103823000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:103822600-103823000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:103822600-103823000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:103822600-103823000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:103822600-103823000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr8:103822600-103823000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:103822600-103823000	Active TSS	Adipose Nuclei	Adipose
43	chr8:103822600-103823000	Active TSS	Colon Smooth Muscle	Colon
44	chr8:103822600-103823000	Active TSS	Esophagus	oesophagus
45	chr8:103822600-103823000	Active TSS	Fetal Stomach	stomach
46	chr8:103822600-103823000	Active TSS	Lung	lung
47	chr8:103822600-103823000	Active TSS	Pancreas	Pancrea
48	chr8:103822600-103823000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr8:103822600-103823200	Active TSS	Ovary	ovary
50	chr8:103822600-103823200	Active TSS	Right Atrium	heart

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