Variant report

Variant	rs567140241
Chromosome Location	chr2:37552210-37552211
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	CTBP2	chr2:37551859-37552571	H1-hESC	embryonic stem cell:	n/a	n/a
2	POU2F2	chr2:37552115-37552669	GM12891	blood:	n/a	n/a
3	KAP1	chr2:37552195-37553236	HEK293	kidney:	n/a	n/a
4	SIN3AK20	chr2:37552115-37552459	A549	lung:	n/a	n/a
5	MAX	chr2:37551580-37552870	SK-N-SH	brain:	n/a	chr2:37552229-37552236
6	YY1	chr2:37551979-37552376	SK-N-SH_RA	brain:	n/a	chr2:37552186-37552197 chr2:37552068-37552077 chr2:37552048-37552062
7	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
8	POLR2A	chr2:37550986-37552582	GM19099	blood:	n/a	n/a
9	SP1	chr2:37551637-37552359	A549	lung:	n/a	chr2:37551701-37551715 chr2:37551711-37551723 chr2:37551711-37551723 chr2:37551713-37551722 chr2:37551940-37551954 chr2:37551933-37551947 chr2:37551712-37551722 chr2:37551708-37551722 chr2:37551712-37551721
10	POLR2A	chr2:37551698-37552749	MCF10A-Er-Src	breast:	n/a	n/a
11	RCOR1	chr2:37551778-37552807	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr2:37551713-37552371	A549	lung:	n/a	n/a
13	ZBTB7A	chr2:37551176-37552261	K562	blood:	n/a	chr2:37552105-37552112 chr2:37551931-37551938
14	ZNF384	chr2:37551886-37552233	K562	blood:	n/a	n/a
15	MAX	chr2:37552128-37552732	H1-hESC	embryonic stem cell:	n/a	chr2:37552229-37552236
16	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
17	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
18	HEY1	chr2:37551995-37552217	K562	blood:	n/a	chr2:37552186-37552201 chr2:37552047-37552062 chr2:37552110-37552125
19	YY1	chr2:37551977-37552339	K562	blood:	n/a	chr2:37552186-37552197 chr2:37552068-37552077 chr2:37552048-37552062
20	POLR2A	chr2:37551698-37552287	HUVEC	blood vessel:	n/a	n/a
21	HDAC2	chr2:37551769-37552720	HepG2	liver:	n/a	n/a
22	CREB1	chr2:37551061-37552703	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:37551587-37552516	HEK293	kidney:	n/a	n/a
24	ZMIZ1	chr2:37551752-37552292	K562	blood:	n/a	n/a
25	POLR2A	chr2:37552027-37552577	U87	brain:	n/a	n/a
26	POLR2A	chr2:37551727-37552370	Hela-S3	cervix:	n/a	n/a
27	JUND	chr2:37551746-37552227	H1-hESC	embryonic stem cell:	n/a	chr2:37551916-37551925
28	MXI1	chr2:37550863-37552718	IMR90	lung:	n/a	n/a
29	SIX5	chr2:37551960-37552234	H1-hESC	embryonic stem cell:	n/a	chr2:37552030-37552039 chr2:37552032-37552041
30	POLR2A	chr2:37552033-37552709	GM12892	blood:	n/a	n/a
31	POLR2A	chr2:37550735-37552767	GM12892	blood:	n/a	n/a
32	MAX	chr2:37551767-37552575	GM12878	blood:	n/a	chr2:37552229-37552236
33	POLR2A	chr2:37551693-37552494	K562	blood:	n/a	n/a
34	MXI1	chr2:37551756-37552779	GM12878	blood:	n/a	n/a
35	YY1	chr2:37551693-37552217	GM12878	blood:	n/a	chr2:37551762-37551773 chr2:37551767-37551776 chr2:37552186-37552197 chr2:37551761-37551775 chr2:37551761-37551770 chr2:37551764-37551778 chr2:37551764-37551773 chr2:37551718-37551732 chr2:37551723-37551732 chr2:37551759-37551770 chr2:37551720-37551729 chr2:37551765-37551776 chr2:37551715-37551729 chr2:37552068-37552077 chr2:37552048-37552062
36	POLR2A	chr2:37551120-37552391	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:37550942-37552535	HepG2	liver:	n/a	n/a
38	YY1	chr2:37551694-37552501	K562	blood:	n/a	chr2:37551762-37551773 chr2:37551767-37551776 chr2:37552186-37552197 chr2:37551761-37551775 chr2:37551761-37551770 chr2:37551764-37551778 chr2:37551764-37551773 chr2:37551718-37551732 chr2:37551723-37551732 chr2:37551759-37551770 chr2:37551720-37551729 chr2:37551765-37551776 chr2:37551715-37551729 chr2:37552068-37552077 chr2:37552048-37552062
39	MYC	chr2:37552048-37552547	MCF-7	breast:	n/a	chr2:37552229-37552236
40	POLR2A	chr2:37551698-37552637	MCF10A-Er-Src	breast:	n/a	n/a
41	CTCF	chr2:37552100-37552250	SAEC	small airway:	n/a	n/a
42	POLR2A	chr2:37552199-37552581	GM12891	blood:	n/a	n/a
43	POLR2A	chr2:37551664-37552357	PFSK-1	brain:	n/a	n/a
44	MAX	chr2:37551441-37552571	H1-hESC	embryonic stem cell:	n/a	chr2:37552229-37552236
45	MYC	chr2:37550922-37552665	NB4	blood:	n/a	chr2:37552229-37552236
46	MXI1	chr2:37551016-37552629	HepG2	liver:	n/a	n/a
47	CHD2	chr2:37551705-37552381	K562	blood:	n/a	n/a
48	YY1	chr2:37551980-37552476	GM12878	blood:	n/a	chr2:37552186-37552197 chr2:37552068-37552077 chr2:37552048-37552062
49	POLR2A	chr2:37552016-37552459	H1-neurons	neurons:	n/a	n/a
50	ETS1	chr2:37551784-37552321	A549	lung:	n/a	chr2:37552030-37552043 chr2:37552029-37552042

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37551896..37552745-chr7:108166541..108167176,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-QPCT-1	chr2:37552203-37552259	XLOC_001428
2	lnc-QPCT-1	chr2:37552100-37552665	NONHSAT070118

Variant related genes	Relation type
ENSG00000232028	TF binding region
PRKD3	TF binding region
ENSG00000135241	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	chr2:37549400-37554000	Active TSS	Right Atrium	heart
3	chr2:37549600-37552600	Active TSS	Colon Smooth Muscle	Colon
4	chr2:37549800-37552600	Active TSS	Brain Cingulate Gyrus	brain
5	chr2:37549800-37552600	Active TSS	NHDF-Ad	bronchial
6	chr2:37549800-37552800	Active TSS	Aorta	Aorta
7	chr2:37549800-37552800	Active TSS	NH-A	brain
8	chr2:37549800-37553800	Active TSS	Duodenum Mucosa	Duodenum
9	chr2:37549800-37553800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:37549800-37554200	Active TSS	Stomach Smooth Muscle	stomach
11	chr2:37549800-37554200	Active TSS	NHLF	lung
12	chr2:37550000-37552600	Active TSS	NHEK	skin
13	chr2:37550000-37552800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:37550000-37552800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:37550000-37554400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:37550200-37552600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:37550200-37553800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:37550200-37553800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr2:37550400-37552400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:37550400-37552400	Active TSS	Brain Hippocampus Middle	brain
21	chr2:37550400-37552400	Active TSS	Osteobl	bone
22	chr2:37550400-37552600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:37550400-37552600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr2:37550400-37552600	Active TSS	Right Ventricle	heart
25	chr2:37550400-37552800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:37550400-37552800	Active TSS	Fetal Kidney	kidney
27	chr2:37550400-37552800	Active TSS	Lung	lung
28	chr2:37550400-37552800	Active TSS	Ovary	ovary
29	chr2:37550400-37552800	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:37550400-37552800	Active TSS	HSMMtube	muscle
31	chr2:37550400-37553200	Active TSS	HSMM	muscle
32	chr2:37550400-37554000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr2:37550400-37554000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr2:37550600-37552400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr2:37550600-37552400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:37550600-37552400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:37550600-37552400	Active TSS	Brain Angular Gyrus	brain
38	chr2:37550600-37552400	Active TSS	Esophagus	oesophagus
39	chr2:37550600-37552600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:37550600-37552600	Active TSS	Colonic Mucosa	Colon
41	chr2:37550600-37552600	Active TSS	Fetal Lung	lung
42	chr2:37550600-37552600	Active TSS	Small Intestine	intestine
43	chr2:37550600-37552800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr2:37550600-37552800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr2:37550600-37552800	Active TSS	Left Ventricle	heart
46	chr2:37550800-37552400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:37550800-37552400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr2:37550800-37552400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:37550800-37552400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr2:37550800-37552400	Active TSS	Hela-S3	cervix

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