Variant report

Variant	rs2792441
Chromosome Location	chr7:150905167-150905168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 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	chr7:150904764-150905203	GM12891	blood:	n/a	n/a
3	POLR2A	chr7:150904753-150905858	K562	blood:	n/a	n/a
4	POLR2A	chr7:150904688-150905279	K562	blood:	n/a	n/a
5	POLR2A	chr7:150903836-150905879	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:150903888-150910558	K562	blood:	n/a	n/a
7	POLR2A	chr7:150904601-150907402	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150905130-150905180	HCPEpiC	choroid plexus:	n/a
2	chr7:150905130-150905180	BE2_C	brain:	n/a
3	chr7:150905130-150905180	PrEC	prostate:	n/a
4	chr7:150905130-150905180	GM12892	blood:	n/a
5	chr7:150905130-150905180	RPTEC	kidney:	n/a
6	chr7:150905130-150905180	A549	lung:	n/a
7	chr7:150905130-150905180	NHDF-neo	bronchial:	n/a
8	chr7:150905130-150905180	NT2-D1	testis:	n/a
9	chr7:150905130-150905180	AG04449	skin:	fetal
10	chr7:150905130-150905180	K562	blood:	n/a
11	chr7:150905130-150905180	HCT-116	colon:	n/a
12	chr7:150905130-150905180	MCF-7	breast:	n/a
13	chr7:150905130-150905180	HIPEpiC	eye:	n/a
14	chr7:150905130-150905180	HCM	heart:	n/a
15	chr7:150905130-150905180	HEK293	kidney:	embryo
16	chr7:150905130-150905180	AoSMC	blood vessel:	n/a
17	chr7:150905130-150905180	HMEC	breast:	n/a
18	chr7:150905130-150905180	CMK	blood:	n/a
19	chr7:150905130-150905180	ovcar-3	ovarian:	n/a
20	chr7:150905130-150905180	Hela-S3	cervix:	n/a
21	chr7:150905130-150905180	SKMC	muscle:	n/a
22	chr7:150905130-150905180	IMR90	lung:	fetal
23	chr7:150905130-150905180	GM12891	blood:	n/a
24	chr7:150905130-150905180	U87	brain:	n/a
25	chr7:150905130-150905180	HRPEpiC	eye:	n/a
26	chr7:150905130-150905180	AG10803	skin:	n/a
27	chr7:150905130-150905180	HNPCEpiC	eye:	n/a
28	chr7:150905130-150905180	SK-N-MC	brain:	n/a
29	chr7:150905130-150905180	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:150905130-150905180	AG04450	lung:	fetal
31	chr7:150905130-150905180	NHBE	bronchial:	n/a
32	chr7:150905130-150905180	GM12878	blood:	n/a
33	chr7:150905130-150905180	HAEpiC	amniotic membrane:	n/a
34	chr7:150905130-150905180	HEEpiC	esophagus:	n/a
35	chr7:150905130-150905180	PANC-1	pancreas:	n/a
36	chr7:150905130-150905180	AG09319	gingival:	n/a
37	chr7:150905130-150905180	Jurkat	blood:	n/a
38	chr7:150905130-150905180	HL-60	blood:	n/a
39	chr7:150905130-150905180	HRCEpiC	kidney:	n/a
40	chr7:150905130-150905180	ProgFib	skin:	n/a
41	chr7:150905130-150905180	HepG2	liver:	n/a
42	chr7:150905130-150905180	MCF10A-Er-Src	breast:	n/a
43	chr7:150905130-150905180	T-47D	breast:	n/a
44	chr7:150905130-150905180	LNCaP	prostate:	n/a
45	chr7:150905130-150905180	NB4	blood:	n/a
46	chr7:150905130-150905180	AG09309	skin:	n/a
47	chr7:150905130-150905180	HUVEC	blood vessel:	n/a
48	chr7:150905130-150905180	BJ	skin:	n/a
49	chr7:150905130-150905180	ECC-1	luminal epithelium:	n/a
50	chr7:150905130-150905180	GM19239	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150869414..150871955-chr7:150904736..150906461,2	K562	blood:
2	chr7:150864964..150867853-chr7:150902641..150905737,3	K562	blood:
3	chr7:150891021..150894047-chr7:150903190..150905839,3	MCF-7	breast:
4	chr7:150864964..150867853-chr7:150903647..150905737,2	K562	blood:
5	chr7:150904819..150907851-chr7:150927889..150929495,3	MCF-7	breast:
6	chr7:150847712..150849868-chr7:150904203..150906196,2	K562	blood:
7	chr7:150903033..150905442-chr7:150914497..150916686,3	MCF-7	breast:
8	chr6:26199713..26200241-chr7:150905163..150905666,2	NB4	blood:

No data

Variant related genes	Relation type
IQCA1P1	TF binding region
IQCA1P1	CpG island
ENSG00000197846	Chromatin interaction
ENSG00000164900	Chromatin interaction
ENSG00000183016	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10236491	1.00[CHB][hapmap]
rs28774985	1.00[CHB][hapmap];1.00[MKK][hapmap]
rs3918201	1.00[CHB][hapmap]

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	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

No data

Chromatin state (count:45 , 50 per page) page: 1

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	chr7:150902600-150905800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr7:150902800-150905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr7:150903000-150905400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:150903000-150905800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:150903000-150905800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:150903000-150905800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:150903000-150908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:150903200-150905400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr7:150903200-150906600	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:150903200-150909600	Weak transcription	Spleen	Spleen
18	chr7:150903600-150905400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:150903800-150905200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr7:150903800-150905200	Enhancers	K562	blood
21	chr7:150903800-150905400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr7:150903800-150905400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:150904000-150906800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr7:150904000-150909000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:150904200-150908000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:150904400-150905800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:150904400-150909600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:150904600-150906000	Enhancers	Fetal Lung	lung
29	chr7:150904600-150909600	Weak transcription	Psoas Muscle	Psoas
30	chr7:150904600-150909600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:150904800-150905600	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:150904800-150907600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:150904800-150908600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:150904800-150908800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:150904800-150909200	Weak transcription	GM12878-XiMat	blood
36	chr7:150904800-150909400	Weak transcription	Fetal Thymus	thymus
37	chr7:150905000-150905200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:150905000-150905200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr7:150905000-150905200	Enhancers	Gastric	stomach
40	chr7:150905000-150906000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:150905000-150908200	Weak transcription	Primary T cells from cord blood	blood
42	chr7:150905000-150908400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:150905000-150910000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:150905000-150910000	Weak transcription	Esophagus	oesophagus
45	chr7:150905000-150910800	Weak transcription	Colonic Mucosa	Colon

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