Variant report

Variant	rs2303952
Chromosome Location	chr8:125577869-125577870
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr8:125577613-125577956	K562	blood:	n/a	chr8:125577786-125577799

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
2	chr8:125548205..125551096-chr8:125575812..125578141,2	MCF-7	breast:
3	chr8:125572673..125575871-chr8:125577015..125582400,6	K562	blood:
4	chr8:125577321..125579071-chr8:125580874..125582837,2	MCF-7	breast:
5	chr8:125576007..125577952-chr8:125590257..125591907,2	MCF-7	breast:
6	chr8:125551552..125553200-chr8:125577686..125580051,3	K562	blood:
7	chr8:125577012..125578605-chr8:125580687..125582553,2	K562	blood:
8	chr8:125574370..125578079-chr8:125630160..125632086,3	MCF-7	breast:
9	chr8:125577831..125580093-chr8:125580434..125583329,2	MCF-7	breast:

No data

Variant related genes	Relation type
MTSS1	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000272486	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6997175	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
2	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
3	chr8:125566200-125590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:125566400-125600600	Weak transcription	NHEK	skin
5	chr8:125566800-125581400	Weak transcription	HSMM	muscle
6	chr8:125567000-125590200	Weak transcription	Fetal Brain Male	brain
7	chr8:125570000-125584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:125571800-125581200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:125574800-125580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:125574800-125581000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:125574800-125590200	Weak transcription	HMEC	breast
14	chr8:125575200-125578000	Genic enhancers	Fetal Muscle Leg	muscle
15	chr8:125575200-125578200	Enhancers	Lung	lung
16	chr8:125575200-125578800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:125575400-125589200	Weak transcription	Esophagus	oesophagus
18	chr8:125575600-125578400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
20	chr8:125575800-125578000	Enhancers	NHDF-Ad	bronchial
21	chr8:125575800-125578600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:125575800-125578600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:125575800-125581000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:125575800-125589200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:125576000-125578400	Weak transcription	HSMMtube	muscle
26	chr8:125576000-125578800	Weak transcription	Brain Anterior Caudate	brain
27	chr8:125576200-125578400	Weak transcription	Colonic Mucosa	Colon
28	chr8:125576200-125578800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:125576400-125578600	Weak transcription	Placenta	Placenta
30	chr8:125576400-125578800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:125576400-125583200	Weak transcription	Pancreas	Pancrea
32	chr8:125576600-125578800	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:125576600-125579200	Genic enhancers	Liver	Liver
34	chr8:125576600-125583600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:125576600-125591400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:125576800-125578400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:125576800-125578800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:125576800-125578800	Weak transcription	Fetal Stomach	stomach
39	chr8:125576800-125590200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:125577000-125578000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr8:125577000-125578800	Weak transcription	Spleen	Spleen
43	chr8:125577000-125579000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr8:125577200-125578000	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr8:125577200-125578000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr8:125577200-125578000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:125577200-125578000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr8:125577200-125578200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:125577200-125578200	Enhancers	Fetal Thymus	thymus
50	chr8:125577200-125578200	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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