Variant report

Variant	rs148480761
Chromosome Location	chr7:97500794-97500795
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:97500784-97501973	Hela-S3	cervix:	n/a	n/a
2	MAX	chr7:97500707-97501996	K562	blood:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
3	REST	chr7:97500756-97502281	H1-neurons	neurons:	n/a	chr7:97501410-97501428 chr7:97501591-97501604
4	POLR2A	chr7:97500723-97502174	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOS	chr7:97500598-97500982	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr7:97500676-97502096	IMR90	lung:	n/a	n/a
7	POLR2A	chr7:97500783-97502166	HCT-116	colon:	n/a	n/a
8	FOS	chr7:97500737-97500924	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr7:97500735-97500935	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:97500793-97501995	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr7:97500711-97500982	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:97500579-97501948	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:97497688-97501967	K562	blood:	n/a	n/a
14	STAT3	chr7:97500724-97501038	MCF10A-Er-Src	breast:	n/a	n/a
15	JUN	chr7:97500756-97500975	K562	blood:	n/a	n/a
16	FOS	chr7:97500636-97500976	MCF10A-Er-Src	breast:	n/a	n/a
17	MXI1	chr7:97499796-97502607	SK-N-SH	brain:	n/a	n/a
18	STAT3	chr7:97500631-97500921	MCF10A-Er-Src	breast:	n/a	chr7:97500694-97500706
19	POLR2A	chr7:97500693-97502198	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97499747..97502097-chr7:97599134..97602634,6	MCF-7	breast:
2	chr7:97499263..97502446-chr7:97599755..97603082,5	K562	blood:
3	chr7:97498933..97501538-chr7:115850035..115852126,2	K562	blood:
4	chr7:97499971..97501829-chr7:97601279..97602819,2	MCF-7	breast:
5	chr7:97496316..97498581-chr7:97499278..97501918,3	MCF-7	breast:
6	chr7:97499263..97501796-chr7:97600194..97603082,4	K562	blood:

Variant related genes	Relation type
ASNS	TF binding region
ENSG00000243554	Chromatin interaction
ENSG00000070669	Chromatin interaction
ENSG00000135269	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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv981552	chr7:97500692-97502806	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97479000-97501000	Weak transcription	Fetal Intestine Large	intestine
2	chr7:97479200-97500800	Weak transcription	Right Ventricle	heart
3	chr7:97479400-97501000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:97479400-97501000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:97479600-97501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:97481400-97501000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:97481800-97500800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:97481800-97501000	Weak transcription	Fetal Intestine Small	intestine
9	chr7:97481800-97501000	Weak transcription	Gastric	stomach
10	chr7:97481800-97501000	Weak transcription	Pancreas	Pancrea
11	chr7:97481800-97501000	Weak transcription	Spleen	Spleen
12	chr7:97482800-97500800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:97483600-97500800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:97483800-97500800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:97484200-97501000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:97484600-97501000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:97486200-97500800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:97486200-97501000	Weak transcription	Fetal Lung	lung
19	chr7:97486600-97501000	Weak transcription	Small Intestine	intestine
20	chr7:97487200-97500800	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:97487800-97500800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:97487800-97500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:97487800-97500800	Weak transcription	Adipose Nuclei	Adipose
24	chr7:97487800-97500800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:97487800-97500800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:97487800-97500800	Weak transcription	Fetal Stomach	stomach
27	chr7:97487800-97501000	Weak transcription	Aorta	Aorta
28	chr7:97487800-97501000	Weak transcription	Brain Substantia Nigra	brain
29	chr7:97487800-97501000	Weak transcription	Ovary	ovary
30	chr7:97488000-97500800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:97489800-97500800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:97493000-97500800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:97493000-97501000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:97493200-97501000	Weak transcription	Esophagus	oesophagus
35	chr7:97494600-97501000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr7:97496200-97501000	Weak transcription	Lung	lung
37	chr7:97496400-97501000	Weak transcription	Left Ventricle	heart
38	chr7:97496600-97500800	Weak transcription	Brain Germinal Matrix	brain
39	chr7:97496600-97501000	Weak transcription	Fetal Kidney	kidney
40	chr7:97498400-97500800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:97499000-97501000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:97499000-97501000	Weak transcription	Fetal Heart	heart
43	chr7:97499400-97500800	Enhancers	Brain Hippocampus Middle	brain
44	chr7:97499600-97500800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:97499800-97500800	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr7:97500000-97501000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:97500000-97502200	Active TSS	H1 Cell Line	embryonic stem cell
48	chr7:97500000-97502400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:97500200-97500800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:97500200-97501000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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