Variant report

Variant	rs139059350
Chromosome Location	chr1:224392836-224392837
allele	A/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 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	chr1:224386204..224388936-chr1:224390782..224393478,2	K562	blood:
4	chr1:224369479..224372718-chr1:224391156..224393202,3	K562	blood:
5	chr1:224370663..224372600-chr1:224391702..224393896,2	K562	blood:
6	chr1:224392062..224394809-chr1:224425403..224428282,2	K562	blood:
7	chr1:224392534..224394870-chr1:224515641..224518461,2	K562	blood:
8	chr1:224391205..224393756-chr1:224397640..224399675,2	MCF-7	breast:
9	chr1:224387475..224389159-chr1:224391292..224393986,3	MCF-7	breast:
10	chr1:224308298..224310827-chr1:224391255..224393377,2	K562	blood:
11	chr1:224390656..224393223-chr1:224397732..224400905,3	K562	blood:
12	chr1:224379393..224381215-chr1:224390955..224393182,2	K562	blood:
13	chr1:224392784..224394708-chr20:49347702..49350093,2	MCF-7	breast:
14	chr1:224391151..224394255-chr1:224397647..224399379,3	MCF-7	breast:

No data

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	esv7156	chr1:224392624-224393400	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	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
7	esv2083847	chr1:224392643-224393334	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv3453483	chr1:224392708-224393216	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv3495371	chr1:224392713-224393216	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv3495367	chr1:224392731-224393244	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv3495368	chr1:224392753-224393171	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	esv3453487	chr1:224392763-224393205	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
13	esv3495372	chr1:224392766-224393187	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
14	esv3495369	chr1:224392781-224393183	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
15	esv3453484	chr1:224392786-224393157	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
16	esv3940	chr1:224392794-224393236	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
17	esv3453485	chr1:224392808-224393139	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
18	esv3495370	chr1:224392820-224393134	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
19	esv3453488	chr1:224392822-224393148	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
20	esv3495374	chr1:224392822-224393148	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
21	esv1008773	chr1:224392824-224393136	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
22	esv1385887	chr1:224392834-224393147	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
23	nsv161004	chr1:224392835-224393147	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224381600-224393400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:224384000-224393200	Weak transcription	Small Intestine	intestine
3	chr1:224389600-224414400	Weak transcription	Fetal Brain Female	brain
4	chr1:224390600-224393000	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:224390600-224393800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:224390600-224393800	Enhancers	Fetal Stomach	stomach
7	chr1:224390600-224394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:224390800-224393400	Enhancers	Brain Germinal Matrix	brain
9	chr1:224390800-224393600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:224390800-224393600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:224390800-224393600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:224390800-224393800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:224390800-224393800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:224390800-224393800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:224390800-224393800	Enhancers	Placenta	Placenta
16	chr1:224390800-224394000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:224391000-224394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:224391000-224394600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:224391400-224393200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:224391400-224393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:224391400-224393800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:224391600-224393400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:224391600-224394200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:224391600-224400000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:224391600-224400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:224391600-224407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:224391800-224393600	Enhancers	Left Ventricle	heart
28	chr1:224392000-224393000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:224392000-224393400	Enhancers	Fetal Brain Male	brain
30	chr1:224392000-224393600	Enhancers	Lung	lung
31	chr1:224392000-224393600	Flanking Active TSS	Dnd41	blood
32	chr1:224392000-224393800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr1:224392200-224393000	Enhancers	Fetal Kidney	kidney
34	chr1:224392200-224393000	Enhancers	Spleen	Spleen
35	chr1:224392200-224393400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:224392200-224393600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:224392200-224393600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:224392200-224393600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:224392200-224393600	Enhancers	Brain Hippocampus Middle	brain
40	chr1:224392200-224393800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:224392200-224393800	Enhancers	Fetal Thymus	thymus
42	chr1:224392200-224393800	Enhancers	HSMMtube	muscle
43	chr1:224392200-224394400	Enhancers	Fetal Intestine Small	intestine
44	chr1:224392200-224394400	Enhancers	Stomach Mucosa	stomach
45	chr1:224392400-224393000	Enhancers	Primary T cells from cord blood	blood
46	chr1:224392400-224393000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:224392400-224393000	Enhancers	Fetal Muscle Leg	muscle
48	chr1:224392400-224393000	Flanking Active TSS	NH-A	brain
49	chr1:224392400-224393400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:224392400-224393400	Active TSS	Stomach Smooth Muscle	stomach

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