Variant report

Variant	rs575995318
Chromosome Location	chr7:99808894-99808895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr7:99808766-99809695	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:99808545-99809687	GM12892	blood:	n/a	n/a
3	RELA	chr7:99808520-99809728	GM12891	blood:	n/a	n/a
4	IKZF1	chr7:99808851-99809473	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:99808651-99809277	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:99808764-99809148	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:99808682-99808932	GM12891	blood:	n/a	n/a
8	NFIC	chr7:99808143-99809713	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:99808593-99809545	GM19193	blood:	n/a	n/a
10	STAT5A	chr7:99808370-99809644	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:99808690-99809365	GM12891	blood:	n/a	n/a
12	PAX5	chr7:99808888-99809487	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:99808450-99809041	H1-neurons	neurons:	n/a	n/a
14	MXI1	chr7:99808836-99809438	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:99808886-99808920	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:99808647-99809553	GM12878	blood:	n/a	n/a
17	YY1	chr7:99808534-99808989	GM12892	blood:	n/a	n/a
18	RELA	chr7:99808852-99809626	GM19099	blood:	n/a	n/a
19	POLR2A	chr7:99808481-99809360	H1-hESC	embryonic stem cell:	n/a	n/a
20	ELK1	chr7:99808792-99809354	GM12878	blood:	n/a	n/a
21	ELF1	chr7:99808476-99808917	GM12878	blood:	n/a	n/a
22	FOSL2	chr7:99808668-99809230	HepG2	liver:	n/a	n/a
23	YY1	chr7:99808496-99809424	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:99808758-99809515	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:99808507-99809319	H1-neurons	neurons:	n/a	n/a
26	SPI1	chr7:99808857-99809717	GM12878	blood:	n/a	n/a
27	WRNIP1	chr7:99808798-99809913	GM12878	blood:	n/a	n/a
28	MTA3	chr7:99808185-99810079	GM12878	blood:	n/a	n/a
29	RELA	chr7:99808446-99809629	GM10847	blood:	n/a	n/a
30	POLR2A	chr7:99808757-99809183	A549	lung:	n/a	n/a
31	YY1	chr7:99808724-99809420	GM12891	blood:	n/a	n/a
32	RUNX3	chr7:99808398-99809944	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:99808839-99809482	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:99808587-99809500	GM18505	blood:	n/a	n/a
35	ATF2	chr7:99808755-99809508	GM12878	blood:	n/a	n/a
36	PML	chr7:99808382-99809698	GM12878	blood:	n/a	n/a
37	ATF2	chr7:99808705-99809513	GM12878	blood:	n/a	n/a
38	CEBPB	chr7:99808759-99810068	GM12878	blood:	n/a	n/a
39	STAT1	chr7:99808893-99808962	GM12878	blood:	n/a	n/a
40	NFATC1	chr7:99808807-99809637	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:99808546-99808922	GM12878	blood:	n/a	n/a
42	RCOR1	chr7:99808879-99809466	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:99808498-99809512	GM12878	blood:	n/a	n/a
44	STAT3	chr7:99808849-99809474	GM12878	blood:	n/a	n/a
45	RUNX3	chr7:99808113-99809725	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:99808642-99809637	GM12892	blood:	n/a	n/a
47	POLR2A	chr7:99808739-99808959	MCF-7	breast:	n/a	n/a
48	POLR2A	chr7:99807925-99809362	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr7:99808404-99809640	GM12892	blood:	n/a	n/a
50	POLR2A	chr7:99808210-99809601	GM12891	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99806315..99809110-chr7:99809565..99811179,2	MCF-7	breast:
2	chr7:99795781..99801540-chr7:99806649..99812120,7	K562	blood:
3	chr7:99724514..99726891-chr7:99806728..99809263,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC2-2	chr7:99806586-99809617	NONHSAT122347
2	lnc-GPC2-2	chr7:99806591-99809617	NONHSAT122348

No data

Variant related genes	Relation type
STAG3	TF binding region
ENSG00000066923	Chromatin interaction
ENSG00000242798	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv981557	chr7:99808038-99811640	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99790000-99817000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:99795600-99812200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:99796400-99813000	Weak transcription	Brain Substantia Nigra	brain
4	chr7:99796800-99816800	Weak transcription	Brain Germinal Matrix	brain
5	chr7:99796800-99817000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:99798000-99812000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:99798200-99811200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:99798600-99810400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:99799000-99816600	Weak transcription	Fetal Brain Female	brain
10	chr7:99800200-99812000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:99801400-99826000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:99803000-99810600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:99803000-99816800	Weak transcription	Brain Angular Gyrus	brain
14	chr7:99803200-99813600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:99805200-99818400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:99805600-99812800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:99806000-99810000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:99806000-99810000	Flanking Active TSS	GM12878-XiMat	blood
19	chr7:99806000-99812400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:99806200-99809000	Enhancers	Fetal Stomach	stomach
21	chr7:99806200-99809200	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:99806200-99809800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr7:99806800-99809000	Weak transcription	HepG2	liver
24	chr7:99806800-99819000	Weak transcription	Fetal Lung	lung
25	chr7:99807200-99809000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:99807200-99809000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:99807200-99809000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:99807200-99809800	Weak transcription	Fetal Intestine Large	intestine
29	chr7:99807200-99828400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:99807200-99847000	Weak transcription	Fetal Kidney	kidney
31	chr7:99807400-99815200	Weak transcription	Pancreas	Pancrea
32	chr7:99807600-99809600	Weak transcription	Fetal Intestine Small	intestine
33	chr7:99807600-99810600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:99807600-99818400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:99807800-99812000	Weak transcription	K562	blood
36	chr7:99808000-99815200	Enhancers	Primary B cells from cord blood	blood
37	chr7:99808200-99809200	Enhancers	Colonic Mucosa	Colon
38	chr7:99808200-99809800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:99808200-99810000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:99808200-99810000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:99808400-99809000	Enhancers	Brain Anterior Caudate	brain
42	chr7:99808400-99809000	Enhancers	Small Intestine	intestine
43	chr7:99808400-99809200	Enhancers	HSMMtube	muscle
44	chr7:99808400-99809600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:99808400-99809800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:99808400-99811000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr7:99808400-99813600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:99808600-99809000	Enhancers	Fetal Muscle Leg	muscle
49	chr7:99808600-99809200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr7:99808600-99809400	Enhancers	Sigmoid Colon	Sigmoid Colon

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