Variant report

Variant	rs561230565
Chromosome Location	chr2:37551616-37551617
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	MAX	chr2:37551580-37552870	SK-N-SH	brain:	n/a	chr2:37552229-37552236
2	HA-E2F1	chr2:37550868-37552809	MCF-7	breast:	n/a	chr2:37551670-37551680 chr2:37551567-37551576 chr2:37551721-37551731 chr2:37552050-37552059 chr2:37551762-37551772 chr2:37551765-37551775 chr2:37551759-37551769 chr2:37551667-37551677 chr2:37551610-37551622
3	POLR2A	chr2:37550986-37552582	GM19099	blood:	n/a	n/a
4	ZBTB7A	chr2:37551176-37552261	K562	blood:	n/a	chr2:37552105-37552112 chr2:37551931-37551938
5	MAX	chr2:37551510-37551979	K562	blood:	n/a	n/a
6	E2F6	chr2:37551423-37552472	H1-hESC	embryonic stem cell:	n/a	chr2:37551670-37551680 chr2:37551567-37551576 chr2:37551721-37551731 chr2:37552050-37552059 chr2:37551762-37551772 chr2:37551765-37551775 chr2:37551759-37551769 chr2:37551606-37551621 chr2:37551667-37551677 chr2:37551610-37551622
7	EP300	chr2:37548191-37553289	SK-N-SH	brain:	n/a	chr2:37553241-37553251 chr2:37551667-37551676 chr2:37551721-37551730 chr2:37552888-37552902 chr2:37552886-37552900 chr2:37548375-37548385 chr2:37552046-37552062 chr2:37551718-37551727 chr2:37551670-37551686 chr2:37551556-37551565 chr2:37549996-37550004 chr2:37551763-37551772 chr2:37552050-37552059 chr2:37552050-37552066 chr2:37551559-37551568 chr2:37551670-37551679 chr2:37551760-37551769 chr2:37551766-37551775
8	POLR2A	chr2:37551402-37551616	HepG2	liver:	n/a	n/a
9	CREB1	chr2:37551061-37552703	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:37551587-37552516	HEK293	kidney:	n/a	n/a
11	POLR2A	chr2:37551459-37551667	A549	lung:	n/a	n/a
12	MXI1	chr2:37550863-37552718	IMR90	lung:	n/a	n/a
13	POLR2A	chr2:37550735-37552767	GM12892	blood:	n/a	n/a
14	YY1	chr2:37551300-37551651	GM12878	blood:	n/a	chr2:37551549-37551560 chr2:37551557-37551566 chr2:37551551-37551565 chr2:37551565-37551576
15	HDAC2	chr2:37551184-37551673	HepG2	liver:	n/a	n/a
16	JUND	chr2:37551367-37552094	A549	lung:	n/a	chr2:37551566-37551575 chr2:37551916-37551925
17	POLR2A	chr2:37551120-37552391	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:37550942-37552535	HepG2	liver:	n/a	n/a
19	MAX	chr2:37551441-37552571	H1-hESC	embryonic stem cell:	n/a	chr2:37552229-37552236
20	MYC	chr2:37550922-37552665	NB4	blood:	n/a	chr2:37552229-37552236
21	MXI1	chr2:37551016-37552629	HepG2	liver:	n/a	n/a
22	CTCF	chr2:37551480-37551630	GM12865	blood:	n/a	n/a
23	ZBTB7A	chr2:37551354-37551714	HepG2	liver:	n/a	n/a
24	TBP	chr2:37551200-37552423	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr2:37551191-37551626	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELF1	chr2:37551342-37551698	K562	blood:	n/a	chr2:37551668-37551680 chr2:37551666-37551675 chr2:37551669-37551678 chr2:37551672-37551681
27	POLR2A	chr2:37551498-37552511	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:37550908-37552676	Gliobla	brain:	n/a	n/a
29	HCFC1	chr2:37550716-37554093	Hela-S3	cervix:	n/a	n/a
30	E2F4	chr2:37551381-37552499	K562	blood:	n/a	chr2:37551670-37551680 chr2:37551567-37551576 chr2:37551721-37551731 chr2:37552050-37552059 chr2:37551762-37551772 chr2:37551765-37551775 chr2:37551759-37551769 chr2:37551606-37551621 chr2:37551667-37551677 chr2:37551610-37551622
31	MYC	chr2:37551583-37551705	MCF-7	breast:	n/a	n/a
32	UBTF	chr2:37550990-37552639	K562	blood:	n/a	n/a
33	ZBTB7A	chr2:37551163-37551804	ECC-1	luminal epithelium:	n/a	n/a
34	E2F6	chr2:37551518-37551772	K562	blood:	n/a	chr2:37551670-37551680 chr2:37551567-37551576 chr2:37551721-37551731 chr2:37551762-37551772 chr2:37551759-37551769 chr2:37551606-37551621 chr2:37551667-37551677 chr2:37551610-37551622
35	CEBPD	chr2:37551434-37551667	HepG2	liver:	n/a	n/a
36	MXI1	chr2:37547850-37553154	SK-N-SH	brain:	n/a	n/a
37	CCNT2	chr2:37551372-37552591	K562	blood:	n/a	chr2:37551712-37551721 chr2:37551691-37551700
38	POLR2A	chr2:37551406-37551684	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr2:37550729-37552179	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr2:37550836-37552781	HepG2	liver:	n/a	chr2:37552229-37552236
41	MAZ	chr2:37550923-37552675	GM12878	blood:	n/a	chr2:37552229-37552236
42	POLR2A	chr2:37550732-37551670	GM12892	blood:	n/a	n/a
43	POLR2A	chr2:37551342-37552325	K562	blood:	n/a	n/a
44	POLR2A	chr2:37551107-37552546	IMR90	lung:	n/a	n/a
45	E2F6	chr2:37550848-37552768	A549	lung:	n/a	chr2:37551670-37551680 chr2:37551567-37551576 chr2:37551721-37551731 chr2:37552050-37552059 chr2:37551762-37551772 chr2:37551765-37551775 chr2:37551759-37551769 chr2:37551606-37551621 chr2:37551667-37551677 chr2:37551610-37551622
46	RUNX3	chr2:37551274-37551651	GM12878	blood:	n/a	n/a
47	POLR2A	chr2:37551410-37552505	GM15510	blood:	n/a	n/a
48	CHD2	chr2:37551499-37552362	HepG2	liver:	n/a	chr2:37551586-37551596
49	EP300	chr2:37551037-37552751	SK-N-SH	brain:	n/a	chr2:37551667-37551676 chr2:37551721-37551730 chr2:37552046-37552062 chr2:37551718-37551727 chr2:37551670-37551686 chr2:37551556-37551565 chr2:37551763-37551772 chr2:37552050-37552059 chr2:37552050-37552066 chr2:37551559-37551568 chr2:37551670-37551679 chr2:37551760-37551769 chr2:37551766-37551775
50	TCF7L2	chr2:37551504-37552629	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:3626527..3627417-chr2:37551455..37552202,2	NB4	blood:

Variant related genes	Relation type
ENSG00000232028	TF binding region
PRKD3	TF binding region
ENSG00000177602	Chromatin interaction
ENSG00000083457	Chromatin interaction

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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	esv3360299	chr2:37550473-37553321	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	esv3419699	chr2:37551398-37552446	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37548800-37554000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:37549400-37552200	Active TSS	GM12878-XiMat	blood
3	chr2:37549400-37554000	Active TSS	Right Atrium	heart
4	chr2:37549600-37552000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:37549600-37552200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:37549600-37552600	Active TSS	Colon Smooth Muscle	Colon
7	chr2:37549800-37552000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:37549800-37552200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:37549800-37552600	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:37549800-37552600	Active TSS	NHDF-Ad	bronchial
11	chr2:37549800-37552800	Active TSS	Aorta	Aorta
12	chr2:37549800-37552800	Active TSS	NH-A	brain
13	chr2:37549800-37553800	Active TSS	Duodenum Mucosa	Duodenum
14	chr2:37549800-37553800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:37549800-37554200	Active TSS	Stomach Smooth Muscle	stomach
16	chr2:37549800-37554200	Active TSS	NHLF	lung
17	chr2:37550000-37552600	Active TSS	NHEK	skin
18	chr2:37550000-37552800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:37550000-37552800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:37550000-37554400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:37550200-37552200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:37550200-37552600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:37550200-37553800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:37550200-37553800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:37550400-37552000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:37550400-37552200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:37550400-37552200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:37550400-37552200	Active TSS	Fetal Stomach	stomach
29	chr2:37550400-37552400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:37550400-37552400	Active TSS	Brain Hippocampus Middle	brain
31	chr2:37550400-37552400	Active TSS	Osteobl	bone
32	chr2:37550400-37552600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:37550400-37552600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:37550400-37552600	Active TSS	Right Ventricle	heart
35	chr2:37550400-37552800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:37550400-37552800	Active TSS	Fetal Kidney	kidney
37	chr2:37550400-37552800	Active TSS	Lung	lung
38	chr2:37550400-37552800	Active TSS	Ovary	ovary
39	chr2:37550400-37552800	Active TSS	Rectal Smooth Muscle	rectum
40	chr2:37550400-37552800	Active TSS	HSMMtube	muscle
41	chr2:37550400-37553200	Active TSS	HSMM	muscle
42	chr2:37550400-37554000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr2:37550400-37554000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr2:37550600-37552200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:37550600-37552400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr2:37550600-37552400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:37550600-37552400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:37550600-37552400	Active TSS	Brain Angular Gyrus	brain
49	chr2:37550600-37552400	Active TSS	Esophagus	oesophagus
50	chr2:37550600-37552600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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