Variant report

Variant	rs189379770
Chromosome Location	chr7:104759045-104759046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:104759021-104759171	ProgFib	skin:	n/a	n/a
2	POLR2A	chr7:104758047-104759648	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:104756442-104759276	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:104757864-104759205	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr7:104750548-104759120	K562	blood:	n/a	n/a
6	POLR2A	chr7:104758791-104759444	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:104758545-104759148	U87	brain:	n/a	n/a
8	POLR2A	chr7:104757084-104759770	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:104758845-104759092	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr7:104758664-104759142	U87	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104755441..104758675-chr7:104758800..104762280,3	K562	blood:
2	chr7:104758738..104761614-chr7:104770602..104772460,2	K562	blood:
3	chr7:104758883..104761697-chr7:104762502..104764624,2	MCF-7	breast:
4	chr7:104757007..104759673-chr7:105027481..105029991,2	MCF-7	breast:
5	chr7:104753338..104755399-chr7:104758513..104760360,2	K562	blood:
6	chr7:104758250..104759925-chr7:105171993..105174192,2	MCF-7	breast:

No data

Variant related genes	Relation type
SRPK2	TF binding region
ENSG00000135249	Chromatin interaction
ENSG00000135250	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104681200-104760400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr7:104706000-104760200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:104722200-104759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:104727800-104759200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:104727800-104759800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:104727800-104760400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:104728000-104760200	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr7:104738800-104760200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:104739000-104759200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr7:104740200-104759400	Strong transcription	Primary B cells from cord blood	blood
12	chr7:104740400-104759200	Strong transcription	Primary T cells from cord blood	blood
13	chr7:104740400-104787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:104740800-104760200	Strong transcription	HMEC	breast
15	chr7:104742200-104759800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:104742400-104760200	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:104750200-104777000	Weak transcription	Right Atrium	heart
18	chr7:104752800-104759400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:104752800-104763200	Weak transcription	Fetal Heart	heart
20	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
21	chr7:104753200-104760800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:104753600-104759600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:104753600-104759800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:104753600-104768000	Weak transcription	Psoas Muscle	Psoas
25	chr7:104753800-104759200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:104753800-104759200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:104753800-104759200	Weak transcription	Ovary	ovary
28	chr7:104753800-104762000	Weak transcription	NHEK	skin
29	chr7:104753800-104763800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:104753800-104764400	Weak transcription	Esophagus	oesophagus
31	chr7:104753800-104764400	Weak transcription	Fetal Stomach	stomach
32	chr7:104753800-104764400	Weak transcription	Pancreas	Pancrea
33	chr7:104753800-104764400	Weak transcription	Spleen	Spleen
34	chr7:104753800-104764600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:104753800-104765800	Weak transcription	Right Ventricle	heart
36	chr7:104753800-104766200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:104753800-104766200	Weak transcription	Gastric	stomach
38	chr7:104753800-104768400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:104753800-104772200	Weak transcription	Aorta	Aorta
40	chr7:104753800-104772800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:104753800-104776600	Weak transcription	Stomach Mucosa	stomach
42	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
43	chr7:104754400-104776800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
45	chr7:104754800-104764400	Weak transcription	Brain Germinal Matrix	brain
46	chr7:104754800-104765800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:104755000-104759600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:104755000-104772600	Weak transcription	Fetal Brain Female	brain
49	chr7:104755200-104760000	Strong transcription	NHLF	lung
50	chr7:104755200-104767000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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