Variant report

Variant	rs571109001
Chromosome Location	chr2:36825132-36825133
allele	A/C
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	RCOR1	chr2:36824737-36825151	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:36824492-36825287	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:36824358-36825631	GM12891	blood:	n/a	n/a
4	MAZ	chr2:36824047-36825614	IMR90	lung:	n/a	chr2:36824826-36824836 chr2:36825365-36825375 chr2:36824829-36824839
5	PML	chr2:36824770-36825142	K562	blood:	n/a	n/a
6	POLR2A	chr2:36824229-36825597	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:36823132-36825590	K562	blood:	n/a	n/a
8	POLR2A	chr2:36824482-36825494	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:36824467-36825143	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:36824617-36825135	A549	lung:	n/a	n/a
11	MAZ	chr2:36824487-36825283	Hela-S3	cervix:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
12	POLR2A	chr2:36824445-36825296	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr2:36824637-36825491	MCF-7	breast:	n/a	n/a
14	HEY1	chr2:36824573-36825489	HepG2	liver:	n/a	chr2:36824998-36825013 chr2:36825359-36825374
15	POLR2A	chr2:36824712-36825134	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:36823807-36825384	GM12878	blood:	n/a	n/a
17	PAX5	chr2:36824876-36825174	GM12892	blood:	n/a	n/a
18	CTCF	chr2:36825000-36825150	GM12871	blood:	n/a	n/a
19	MYC	chr2:36824494-36825139	K562	blood:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
20	MAX	chr2:36824331-36825165	HCT-116	colon:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
21	POLR2A	chr2:36824507-36825318	U87	brain:	n/a	n/a
22	POLR2A	chr2:36824589-36825531	K562	blood:	n/a	n/a
23	POLR2A	chr2:36824115-36825628	K562	blood:	n/a	n/a
24	POLR2A	chr2:36824588-36825556	IMR90	lung:	n/a	n/a
25	CTCF	chr2:36825000-36825150	GM12873	blood:	n/a	n/a
26	POLR2A	chr2:36824594-36825526	ECC-1	luminal epithelium:	n/a	n/a
27	TCF12	chr2:36824942-36825149	GM12878	blood:	n/a	n/a
28	MAX	chr2:36824175-36825192	A549	lung:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
29	EGR1	chr2:36824823-36825148	H1-hESC	embryonic stem cell:	n/a	chr2:36824987-36825000 chr2:36824828-36824838 chr2:36824984-36824998 chr2:36824988-36824999 chr2:36824890-36824903 chr2:36824986-36825001
30	IRF1	chr2:36824509-36825876	K562	blood:	n/a	chr2:36825356-36825370 chr2:36824894-36824908
31	ELF1	chr2:36824515-36825308	GM12878	blood:	n/a	n/a
32	MXI1	chr2:36824108-36825649	IMR90	lung:	n/a	n/a
33	POLR2A	chr2:36823878-36825600	HUVEC	blood vessel:	n/a	n/a
34	TAF1	chr2:36824744-36825422	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:36824571-36825551	GM15510	blood:	n/a	n/a
36	MAX	chr2:36824405-36825177	SK-N-SH	brain:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
37	POLR2A	chr2:36824598-36825142	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:36824465-36825330	Hela-S3	cervix:	n/a	n/a
39	MYC	chr2:36824429-36825572	NB4	blood:	n/a	chr2:36824826-36824836 chr2:36825365-36825375 chr2:36824829-36824839
40	E2F6	chr2:36824532-36825151	A549	lung:	n/a	chr2:36824828-36824837 chr2:36824788-36824800
41	TCF12	chr2:36824221-36825352	A549	lung:	n/a	n/a
42	POLR2A	chr2:36824308-36825518	ProgFib	skin:	n/a	n/a
43	HMGN3	chr2:36824743-36825145	K562	blood:	n/a	n/a
44	POLR2A	chr2:36824553-36825258	GM12892	blood:	n/a	n/a
45	POLR2A	chr2:36824708-36825319	HepG2	liver:	n/a	n/a
46	MAX	chr2:36824065-36825229	A549	lung:	n/a	chr2:36824826-36824836 chr2:36824829-36824839
47	POLR2A	chr2:36824500-36825504	HL-60	blood:	n/a	n/a
48	SIN3A	chr2:36824257-36825822	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr2:36824629-36825523	ECC-1	luminal epithelium:	n/a	n/a
50	YY1	chr2:36824610-36825143	K562	blood:	n/a	chr2:36824828-36824837

No.	Distal block	Cell Line	Cell type
1	chr19:18668542..18669248-chr2:36824810..36825370,2	Hela-S3	cervix:
2	chr2:36795603..36797557-chr2:36823655..36825213,2	MCF-7	breast:
3	chr2:36582902..36585503-chr2:36823410..36825462,3	MCF-7	breast:
4	chr2:36817392..36820041-chr2:36820581..36825790,5	MCF-7	breast:
5	chr2:36824869..36825813-chr7:25164272..25164970,2	Hela-S3	cervix:
6	chr2:36806495..36808233-chr2:36823601..36825272,2	K562	blood:
7	chr2:36823490..36825133-chr2:36832447..36835155,2	K562	blood:
8	chr2:36810053..36812056-chr2:36823147..36825466,2	K562	blood:
9	chr2:36824822..36825365-chr3:170587432..170588313,2	HCT-116	colon:
10	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:

Variant related genes	Relation type
FEZ2	TF binding region
ENSG00000163584	Chromatin interaction
ENSG00000172115	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000150938	Chromatin interaction
ENSG00000256845	Chromatin interaction
ENSG00000171055	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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv2681	chr2:36822990-36848171	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3339525	chr2:36824073-36826621	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3342085	chr2:36824398-36826396	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 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	chr2:36823400-36825400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36823400-36825600	Active TSS	NHLF	lung
3	chr2:36823400-36825800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:36823800-36825600	Active TSS	Psoas Muscle	Psoas
5	chr2:36824000-36825400	Active TSS	HSMMtube	muscle
6	chr2:36824000-36825600	Active TSS	Brain Germinal Matrix	brain
7	chr2:36824000-36825600	Active TSS	A549	lung
8	chr2:36824000-36825800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:36824200-36825200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:36824200-36825400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:36824200-36825400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:36824200-36825400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:36824200-36825600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:36824200-36825600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:36824400-36825200	Active TSS	Esophagus	oesophagus
16	chr2:36824400-36825200	Active TSS	Lung	lung
17	chr2:36824400-36825400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:36824400-36825400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:36824400-36825400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr2:36824400-36825400	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr2:36824400-36825400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:36824400-36825400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:36824400-36825400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:36824400-36825400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:36824400-36825400	Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:36824400-36825400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:36824400-36825400	Active TSS	Fetal Intestine Small	intestine
28	chr2:36824400-36825400	Active TSS	Rectal Smooth Muscle	rectum
29	chr2:36824400-36825400	Active TSS	Small Intestine	intestine
30	chr2:36824400-36825400	Active TSS	HMEC	breast
31	chr2:36824400-36825400	Active TSS	HSMM	muscle
32	chr2:36824400-36825400	Active TSS	NH-A	brain
33	chr2:36824400-36825400	Active TSS	NHDF-Ad	bronchial
34	chr2:36824400-36825400	Active TSS	Osteobl	bone
35	chr2:36824400-36825600	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:36824400-36825600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:36824400-36825600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:36824400-36825600	Active TSS	Brain Hippocampus Middle	brain
39	chr2:36824400-36825600	Active TSS	Colon Smooth Muscle	Colon
40	chr2:36824400-36825600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr2:36824400-36825600	Active TSS	Left Ventricle	heart
42	chr2:36824400-36825600	Active TSS	Ovary	ovary
43	chr2:36824400-36825600	Active TSS	GM12878-XiMat	blood
44	chr2:36824400-36825800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:36824400-36825800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr2:36824400-36825800	Active TSS	Aorta	Aorta
47	chr2:36824400-36825800	Active TSS	Fetal Muscle Trunk	muscle
48	chr2:36824400-36825800	Active TSS	Gastric	stomach
49	chr2:36824400-36826000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:36824400-36826000	Active TSS	Brain Angular Gyrus	brain

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