Variant report

Variant	rs192357652
Chromosome Location	chr2:48757264-48757265
allele	C/G
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	E2F6	chr2:48756849-48757338	H1-hESC	embryonic stem cell:	n/a	chr2:48756997-48757006
2	POLR2A	chr2:48757165-48757560	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr2:48756857-48757992	K562	blood:	n/a	n/a
4	ZNF263	chr2:48756209-48758874	HEK293-T-REx	kidney:	n/a	n/a
5	ZBTB7A	chr2:48757170-48758028	ECC-1	luminal epithelium:	n/a	n/a
6	ZBTB7A	chr2:48756832-48758054	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr2:48757257-48757393	A549	lung:	n/a	n/a
8	POLR2A	chr2:48757087-48757532	HUVEC	blood vessel:	n/a	n/a
9	MAZ	chr2:48757059-48757659	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:48757013-48757517	ProgFib	skin:	n/a	n/a
11	EGR1	chr2:48756847-48757462	K562	blood:	n/a	chr2:48756997-48757007 chr2:48756996-48757006 chr2:48757176-48757190 chr2:48756993-48757002 chr2:48756991-48757005 chr2:48756991-48757006 chr2:48756987-48757009 chr2:48756992-48757005 chr2:48756992-48757005 chr2:48757162-48757176 chr2:48756992-48757005 chr2:48756992-48757005
12	MAZ	chr2:48756460-48757862	K562	blood:	n/a	chr2:48756809-48756819
13	HDAC2	chr2:48757224-48757524	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr2:48756892-48757333	H1-hESC	embryonic stem cell:	n/a	n/a
15	RXRA	chr2:48757222-48757454	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:48757224-48757534	HUVEC	blood vessel:	n/a	n/a
17	RAD21	chr2:48757250-48757375	SK-N-SH_RA	brain:	n/a	n/a
18	EGR1	chr2:48756828-48757373	K562	blood:	n/a	chr2:48756997-48757007 chr2:48756996-48757006 chr2:48757176-48757190 chr2:48756993-48757002 chr2:48756991-48757005 chr2:48756991-48757006 chr2:48756987-48757009 chr2:48756992-48757005 chr2:48756992-48757005 chr2:48757162-48757176 chr2:48756992-48757005 chr2:48756992-48757005
19	POLR2A	chr2:48757251-48757438	SK-N-SH	brain:	n/a	n/a
20	MAZ	chr2:48756430-48759198	IMR90	lung:	n/a	chr2:48756809-48756819
21	EBF1	chr2:48757257-48757529	GM12878	blood:	n/a	chr2:48757367-48757378 chr2:48757403-48757414
22	EBF1	chr2:48757179-48757701	GM12878	blood:	n/a	chr2:48757367-48757378 chr2:48757403-48757414
23	ZBTB7A	chr2:48757252-48757579	K562	blood:	n/a	n/a
24	ZBTB7A	chr2:48757097-48757601	K562	blood:	n/a	n/a
25	POLR2A	chr2:48757230-48757699	SK-N-MC	brain:	n/a	n/a
26	EGR1	chr2:48757118-48757268	GM12878	blood:	n/a	chr2:48757176-48757190 chr2:48757162-48757176
27	CCNT2	chr2:48757262-48757674	K562	blood:	n/a	n/a
28	POLR2A	chr2:48757193-48757488	Gliobla	brain:	n/a	n/a
29	JUND	chr2:48757238-48757390	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr2:48756933-48757500	SK-N-SH	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STON1-1	chr2:48757019-48759056	NONHSAT070625

Variant related genes	Relation type
STON1	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3390375	chr2:48755948-48758496	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3359548	chr2:48756073-48758621	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48740000-48757600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:48743400-48757400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:48743400-48757400	Weak transcription	Gastric	stomach
4	chr2:48756400-48757800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:48756400-48757800	Active TSS	HSMM	muscle
6	chr2:48756400-48758000	Enhancers	Fetal Brain Male	brain
7	chr2:48756400-48758000	Flanking Active TSS	Dnd41	blood
8	chr2:48756400-48758600	Active TSS	Fetal Kidney	kidney
9	chr2:48756400-48759000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:48756600-48757400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:48756600-48757600	Weak transcription	Fetal Heart	heart
12	chr2:48756600-48757600	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr2:48756600-48757600	Active TSS	GM12878-XiMat	blood
14	chr2:48756600-48758000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:48756600-48758000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:48756600-48758000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr2:48756600-48758200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:48756600-48758400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:48756600-48758600	Active TSS	Fetal Lung	lung
20	chr2:48756600-48758800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr2:48756600-48758800	Active TSS	Duodenum Mucosa	Duodenum
22	chr2:48756600-48759000	Active TSS	Colon Smooth Muscle	Colon
23	chr2:48756600-48759000	Active TSS	Fetal Brain Female	brain
24	chr2:48756600-48759800	Active TSS	Stomach Smooth Muscle	stomach
25	chr2:48756800-48757400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:48756800-48757400	Active TSS	Colonic Mucosa	Colon
27	chr2:48756800-48757400	Active TSS	Psoas Muscle	Psoas
28	chr2:48756800-48757600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:48756800-48757600	Active TSS	Right Ventricle	heart
30	chr2:48756800-48757600	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr2:48756800-48757600	Active TSS	Thymus	Thymus
32	chr2:48756800-48757600	Active TSS	HepG2	liver
33	chr2:48756800-48757600	Active TSS	HMEC	breast
34	chr2:48756800-48757600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
35	chr2:48756800-48757600	Active TSS	NHEK	skin
36	chr2:48756800-48757800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:48756800-48757800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr2:48756800-48757800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:48756800-48757800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr2:48756800-48757800	Active TSS	Brain Cingulate Gyrus	brain
41	chr2:48756800-48757800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr2:48756800-48757800	Active TSS	Small Intestine	intestine
43	chr2:48756800-48757800	Enhancers	Stomach Mucosa	stomach
44	chr2:48756800-48757800	Active TSS	A549	lung
45	chr2:48756800-48757800	Active TSS	HSMMtube	muscle
46	chr2:48756800-48757800	Active TSS	K562	blood
47	chr2:48756800-48758000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr2:48756800-48758000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:48756800-48758000	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr2:48756800-48758000	Active TSS	Placenta Amnion	Placenta Amnion

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