Variant report

Variant	rs552044024
Chromosome Location	chr7:150905847-150905848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150903944-150907362	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:150905255-150906010	A549	lung:	n/a	n/a
3	POLR2A	chr7:150904753-150905858	K562	blood:	n/a	n/a
4	ZNF263	chr7:150905659-150905921	HEK293-T-REx	kidney:	n/a	n/a
5	POLR2A	chr7:150905580-150906004	K562	blood:	n/a	n/a
6	POLR2A	chr7:150903836-150905879	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:150903888-150910558	K562	blood:	n/a	n/a
8	POLR2A	chr7:150904601-150907402	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:150905328-150905960	GM12891	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150893356..150896342-chr7:150905267..150908010,3	K562	blood:
2	chr7:150869414..150871955-chr7:150904736..150906461,2	K562	blood:
3	chr7:150905206..150906764-chr7:150930054..150932100,2	MCF-7	breast:
4	chr7:150901201..150903051-chr7:150905841..150907689,2	MCF-7	breast:
5	chr7:150904819..150907851-chr7:150927889..150929495,3	MCF-7	breast:
6	chr7:150847712..150849868-chr7:150904203..150906196,2	K562	blood:
7	chr7:150905577..150911406-chr7:150912646..150916801,5	MCF-7	breast:

No data

Variant related genes	Relation type
IQCA1P1	TF binding region
ENSG00000164900	Chromatin interaction
ENSG00000183016	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	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv971515	chr7:150905324-150908880	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150885000-150910000	Weak transcription	Right Atrium	heart
2	chr7:150899000-150909600	Weak transcription	Aorta	Aorta
3	chr7:150901800-150910000	Weak transcription	Ovary	ovary
4	chr7:150902000-150906000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:150902000-150910200	Weak transcription	Right Ventricle	heart
6	chr7:150902000-150910400	Weak transcription	Pancreas	Pancrea
7	chr7:150902400-150907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:150903000-150908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:150903200-150906600	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:150903200-150909600	Weak transcription	Spleen	Spleen
11	chr7:150904000-150906800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr7:150904000-150909000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:150904200-150908000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:150904400-150909600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:150904600-150906000	Enhancers	Fetal Lung	lung
16	chr7:150904600-150909600	Weak transcription	Psoas Muscle	Psoas
17	chr7:150904600-150909600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:150904800-150907600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:150904800-150908600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:150904800-150908800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:150904800-150909200	Weak transcription	GM12878-XiMat	blood
22	chr7:150904800-150909400	Weak transcription	Fetal Thymus	thymus
23	chr7:150905000-150906000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:150905000-150908200	Weak transcription	Primary T cells from cord blood	blood
25	chr7:150905000-150908400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:150905000-150910000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:150905000-150910000	Weak transcription	Esophagus	oesophagus
28	chr7:150905000-150910800	Weak transcription	Colonic Mucosa	Colon
29	chr7:150905200-150908000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:150905200-150908600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:150905200-150909200	Weak transcription	K562	blood
32	chr7:150905200-150909600	Weak transcription	Gastric	stomach
33	chr7:150905200-150910000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:150905200-150910200	Weak transcription	A549	lung
35	chr7:150905400-150906400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:150905400-150908800	Weak transcription	Fetal Intestine Small	intestine
37	chr7:150905400-150909000	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:150905400-150909400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:150905400-150909600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:150905400-150912000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:150905400-150912000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:150905600-150906600	Weak transcription	Fetal Brain Male	brain
43	chr7:150905600-150909200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:150905600-150910000	Weak transcription	Brain Germinal Matrix	brain
45	chr7:150905600-150910000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr7:150905600-150911600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr7:150905800-150908800	Weak transcription	Primary B cells from cord blood	blood
48	chr7:150905800-150908800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:150905800-150909000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:150905800-150909200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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