Variant report

Variant	rs540863459
Chromosome Location	chr1:224393631-224393632
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224368986..224373517-chr1:224390991..224394171,5	MCF-7	breast:
2	chr1:224374669..224377400-chr1:224391823..224393961,2	K562	blood:
3	chr1:224370663..224372600-chr1:224391702..224393896,2	K562	blood:
4	chr1:224392062..224394809-chr1:224425403..224428282,2	K562	blood:
5	chr1:224392534..224394870-chr1:224515641..224518461,2	K562	blood:
6	chr1:224369572..224371706-chr1:224393451..224396309,2	MCF-7	breast:
7	chr1:224391205..224393756-chr1:224397640..224399675,2	MCF-7	breast:
8	chr1:224387475..224389159-chr1:224391292..224393986,3	MCF-7	breast:
9	chr1:224392784..224394708-chr20:49347702..49350093,2	MCF-7	breast:
10	chr1:224391151..224394255-chr1:224397647..224399379,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124171	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000143748	Chromatin interaction
ENSG00000232628	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv3394698	chr1:224392129-224394152	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv3339077	chr1:224392629-224393677	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224389600-224414400	Weak transcription	Fetal Brain Female	brain
2	chr1:224390600-224393800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:224390600-224393800	Enhancers	Fetal Stomach	stomach
4	chr1:224390600-224394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:224390800-224393800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:224390800-224393800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:224390800-224393800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:224390800-224393800	Enhancers	Placenta	Placenta
9	chr1:224390800-224394000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:224391000-224394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:224391000-224394600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:224391400-224393800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:224391600-224394200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:224391600-224400000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:224391600-224400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:224391600-224407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:224392000-224393800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:224392200-224393800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:224392200-224393800	Enhancers	Fetal Thymus	thymus
20	chr1:224392200-224393800	Enhancers	HSMMtube	muscle
21	chr1:224392200-224394400	Enhancers	Fetal Intestine Small	intestine
22	chr1:224392200-224394400	Enhancers	Stomach Mucosa	stomach
23	chr1:224392400-224393800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:224392400-224393800	Enhancers	Colonic Mucosa	Colon
25	chr1:224392600-224393800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:224392600-224400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:224392800-224393800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:224392800-224393800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr1:224392800-224393800	Enhancers	Colon Smooth Muscle	Colon
30	chr1:224392800-224393800	Enhancers	Fetal Lung	lung
31	chr1:224392800-224393800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:224392800-224393800	Enhancers	GM12878-XiMat	blood
33	chr1:224392800-224394000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:224392800-224394000	Enhancers	NHEK	skin
35	chr1:224392800-224394200	Enhancers	Primary B cells from cord blood	blood
36	chr1:224392800-224394400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:224392800-224394400	Enhancers	Primary B cells from peripheral blood	blood
38	chr1:224392800-224394400	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:224392800-224394400	Enhancers	Adipose Nuclei	Adipose
40	chr1:224392800-224394400	Enhancers	Liver	Liver
41	chr1:224392800-224394600	Enhancers	Fetal Intestine Large	intestine
42	chr1:224392800-224395000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:224393000-224393800	Flanking Active TSS	Hela-S3	cervix
44	chr1:224393000-224393800	Enhancers	NH-A	brain
45	chr1:224393200-224393800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr1:224393200-224393800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:224393200-224393800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:224393200-224394000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:224393200-224394000	Enhancers	Small Intestine	intestine
50	chr1:224393400-224393800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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