Variant report

Variant	rs111275619
Chromosome Location	chr2:168149600-168149601
allele	G/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	MAX	chr2:168148809-168150359	ECC-1	luminal epithelium:	n/a	chr2:168149920-168149930
2	EGR1	chr2:168149591-168149760	GM12878	blood:	n/a	chr2:168149705-168149719
3	YY1	chr2:168149208-168149670	SK-N-SH_RA	brain:	n/a	chr2:168149552-168149566 chr2:168149336-168149347
4	POLR2A	chr2:168148879-168150319	H1-neurons	neurons:	n/a	n/a
5	SIN3AK20	chr2:168149296-168150216	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr2:168148863-168150252	ECC-1	luminal epithelium:	n/a	chr2:168149920-168149930
7	GABPA	chr2:168149248-168149834	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr2:168148849-168150342	H1-hESC	embryonic stem cell:	n/a	chr2:168149920-168149930
9	POLR2A	chr2:168149232-168149627	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr2:168149016-168149735	MCF-7	breast:	n/a	n/a
11	POLR2A	chr2:168149139-168149615	ECC-1	luminal epithelium:	n/a	n/a
12	EGR1	chr2:168149600-168149756	GM12878	blood:	n/a	chr2:168149705-168149719
13	MAZ	chr2:168148780-168150120	IMR90	lung:	n/a	chr2:168149920-168149930
14	REST	chr2:168149141-168149714	SK-N-SH	brain:	n/a	chr2:168149579-168149592 chr2:168149579-168149592
15	CHD1	chr2:168148448-168150272	IMR90	lung:	n/a	chr2:168149149-168149159 chr2:168149142-168149152
16	CTCF	chr2:168148780-168150935	SK-N-SH	brain:	n/a	chr2:168150000-168150013 chr2:168150670-168150683 chr2:168150003-168150016 chr2:168150581-168150594
17	E2F6	chr2:168149563-168149762	K562	blood:	n/a	n/a
18	POLR2A	chr2:168149181-168149601	HCT-116	colon:	n/a	n/a
19	SP1	chr2:168149160-168149622	A549	lung:	n/a	chr2:168149430-168149451
20	ELF1	chr2:168149228-168149609	K562	blood:	n/a	n/a
21	ZNF143	chr2:168148892-168149659	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTBP2	chr2:168148930-168150858	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr2:168149094-168149638	MCF-7	breast:	n/a	n/a
24	ATF3	chr2:168149455-168149778	HepG2	liver:	n/a	n/a
25	MAX	chr2:168148838-168149697	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr2:168149138-168149687	MCF-7	breast:	n/a	n/a
27	CREB1	chr2:168148832-168149649	H1-hESC	embryonic stem cell:	n/a	n/a
28	ELF1	chr2:168149016-168149742	GM12878	blood:	n/a	n/a
29	REST	chr2:168148722-168150445	H1-neurons	neurons:	n/a	chr2:168150408-168150422 chr2:168149579-168149592 chr2:168149874-168149887 chr2:168150292-168150300 chr2:168149579-168149592
30	E2F6	chr2:168148744-168149608	A549	lung:	n/a	chr2:168149476-168149485 chr2:168149553-168149563 chr2:168149344-168149353 chr2:168149142-168149151 chr2:168149559-168149569
31	POLR2A	chr2:168148771-168149609	SK-N-MC	brain:	n/a	n/a
32	YY1	chr2:168148876-168149703	H1-hESC	embryonic stem cell:	n/a	chr2:168149663-168149674 chr2:168149552-168149566 chr2:168149336-168149347 chr2:168149140-168149151
33	POLR2A	chr2:168149182-168149651	HUVEC	blood vessel:	n/a	n/a
34	CHD2	chr2:168148896-168149613	H1-hESC	embryonic stem cell:	n/a	chr2:168149149-168149159 chr2:168149142-168149152
35	POLR2A	chr2:168148787-168149675	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr2:168149363-168149723	HepG2	liver:	n/a	n/a
37	JUND	chr2:168149143-168149616	H1-hESC	embryonic stem cell:	n/a	chr2:168149439-168149448
38	MXI1	chr2:168149281-168149613	H1-hESC	embryonic stem cell:	n/a	n/a
39	MXI1	chr2:168148220-168151717	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr2:168148883-168149769	IMR90	lung:	n/a	n/a
41	ZNF263	chr2:168148796-168150681	HEK293-T-REx	kidney:	n/a	n/a
42	RAD21	chr2:168148853-168149792	IMR90	lung:	n/a	n/a
43	TAF7	chr2:168148771-168149672	H1-hESC	embryonic stem cell:	n/a	n/a
44	SP1	chr2:168149220-168149705	H1-hESC	embryonic stem cell:	n/a	chr2:168149671-168149680 chr2:168149430-168149451
45	CTCF	chr2:168149580-168149730	HCM	heart:	n/a	n/a
46	POLR2A	chr2:168148735-168149719	PFSK-1	brain:	n/a	n/a
47	HDAC2	chr2:168148787-168149805	MCF-7	breast:	n/a	n/a
48	YY1	chr2:168148958-168149764	HepG2	liver:	n/a	chr2:168149663-168149674 chr2:168149552-168149566 chr2:168149336-168149347 chr2:168149140-168149151
49	MAX	chr2:168148779-168149645	SK-N-SH	brain:	n/a	n/a
50	CCNT2	chr2:168149524-168149719	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228222	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3412741	chr2:168148456-168151654	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168148400-168150600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:168148600-168149600	Active TSS	Primary hematopoietic stem cells	blood
3	chr2:168148600-168149800	Active TSS	Muscle Satellite Cultured Cells	--
4	chr2:168148600-168149800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:168148600-168149800	Active TSS	Stomach Smooth Muscle	stomach
6	chr2:168148600-168149800	Bivalent/Poised TSS	HUVEC	blood vessel
7	chr2:168148600-168150000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:168148600-168150000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr2:168148600-168150200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:168148600-168150200	Active TSS	NH-A	brain
11	chr2:168148600-168150600	Active TSS	Right Atrium	heart
12	chr2:168148600-168150800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr2:168148600-168150800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:168148600-168150800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:168148600-168151600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:168148600-168151600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr2:168148600-168151800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr2:168148600-168151800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr2:168148600-168151800	Active TSS	Brain Hippocampus Middle	brain
20	chr2:168148600-168151800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr2:168148600-168151800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:168148600-168151800	Active TSS	NHLF	lung
23	chr2:168148600-168152000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:168148600-168152000	Active TSS	Brain Anterior Caudate	brain
25	chr2:168148600-168152200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr2:168148800-168149600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:168148800-168149600	Active TSS	HMEC	breast
28	chr2:168148800-168149800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:168148800-168149800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:168148800-168149800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr2:168148800-168149800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
32	chr2:168148800-168149800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:168148800-168149800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:168148800-168149800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:168148800-168149800	Active TSS	Adipose Nuclei	Adipose
36	chr2:168148800-168149800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr2:168148800-168149800	Active TSS	Fetal Muscle Leg	muscle
38	chr2:168148800-168149800	Active TSS	Ovary	ovary
39	chr2:168148800-168149800	Active TSS	Pancreas	Pancrea
40	chr2:168148800-168149800	Bivalent/Poised TSS	Thymus	Thymus
41	chr2:168148800-168149800	Active TSS	Spleen	Spleen
42	chr2:168148800-168149800	Bivalent/Poised TSS	A549	lung
43	chr2:168148800-168149800	Active TSS	HSMM	muscle
44	chr2:168148800-168149800	Bivalent/Poised TSS	NHEK	skin
45	chr2:168148800-168150000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:168148800-168150000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:168148800-168150000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr2:168148800-168150000	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr2:168148800-168150000	Active TSS	Fetal Lung	lung
50	chr2:168148800-168150000	Active TSS	Psoas Muscle	Psoas

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