Variant report

Variant	rs60212745
Chromosome Location	chr2:234159770-234159771
allele	C/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	KAP1	chr2:234159672-234160412	U2OS	brain:	n/a	n/a
2	SMC3	chr2:234159538-234161024	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr2:234159692-234160585	ECC-1	luminal epithelium:	n/a	n/a
4	RAD21	chr2:234159756-234160736	HCT-116	colon:	n/a	chr2:234160129-234160143 chr2:234159797-234159806
5	MAX	chr2:234159695-234160630	ECC-1	luminal epithelium:	n/a	chr2:234160267-234160277
6	GABPA	chr2:234159633-234161088	A549	lung:	n/a	chr2:234160680-234160689
7	GABPA	chr2:234159679-234160868	HL-60	blood:	n/a	chr2:234160680-234160689
8	RAD21	chr2:234159752-234160574	MCF-7	breast:	n/a	chr2:234160129-234160143 chr2:234159797-234159806
9	RAD21	chr2:234159753-234160563	A549	lung:	n/a	chr2:234160129-234160143 chr2:234159797-234159806
10	KAP1	chr2:234159342-234160096	K562	blood:	n/a	n/a
11	CREB1	chr2:234159668-234160641	HepG2	liver:	n/a	n/a
12	SETDB1	chr2:234159252-234160308	U2OS	brain:	n/a	n/a
13	YY1	chr2:234159579-234160504	HepG2	liver:	n/a	n/a
14	CUX1	chr2:234159765-234160099	K562	blood:	n/a	n/a
15	RELA	chr2:234159755-234160575	GM18951	blood:	n/a	n/a
16	SIN3AK20	chr2:234159715-234161379	MCF-7	breast:	n/a	n/a
17	ELF1	chr2:234159675-234160699	HCT-116	colon:	n/a	chr2:234160193-234160202 chr2:234160194-234160203 chr2:234160192-234160205
18	CTCF	chr2:234159707-234160617	HCT-116	colon:	n/a	chr2:234160160-234160176
19	MAX	chr2:234159694-234160935	K562	blood:	n/a	chr2:234160267-234160277
20	FOXM1	chr2:234159706-234160554	GM12878	blood:	n/a	n/a
21	REST	chr2:234159585-234161099	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr2:234159714-234160723	Raji	blood:	n/a	n/a
23	NFIC	chr2:234159634-234160706	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:234159661-234160540	GM12878	blood:	n/a	n/a
25	RAD21	chr2:234159718-234160671	ECC-1	luminal epithelium:	n/a	chr2:234160129-234160143 chr2:234159797-234159806
26	TCF12	chr2:234159647-234160701	ECC-1	luminal epithelium:	n/a	chr2:234159801-234159808
27	BCL3	chr2:234159677-234160674	A549	lung:	n/a	chr2:234160193-234160202
28	RUNX3	chr2:234159735-234160536	GM12878	blood:	n/a	n/a
29	SMC3	chr2:234159696-234160437	GM12878	blood:	n/a	n/a
30	CREB1	chr2:234159607-234160575	GM12878	blood:	n/a	n/a
31	YY1	chr2:234159672-234159847	K562	blood:	n/a	n/a
32	STAT5A	chr2:234159759-234160501	GM12878	blood:	n/a	chr2:234160115-234160123
33	RAD21	chr2:234159524-234160704	HCT-116	colon:	n/a	chr2:234160129-234160143 chr2:234159797-234159806
34	PAX5	chr2:234159647-234160600	GM12878	blood:	n/a	chr2:234160089-234160108 chr2:234160088-234160106
35	MYBL2	chr2:234159747-234160554	HepG2	liver:	n/a	n/a
36	BHLHE40	chr2:234159749-234160472	K562	blood:	n/a	n/a
37	REST	chr2:234159687-234160580	A549	lung:	n/a	n/a
38	TEAD4	chr2:234159599-234160569	HepG2	liver:	n/a	n/a
39	STAT5A	chr2:234159728-234160348	GM12878	blood:	n/a	chr2:234160115-234160123
40	EP300	chr2:234159706-234160494	ECC-1	luminal epithelium:	n/a	n/a
41	ATF2	chr2:234159727-234160623	GM12878	blood:	n/a	n/a
42	RCOR1	chr2:234159741-234160487	GM12878	blood:	n/a	n/a
43	MAX	chr2:234159764-234160613	MCF-7	breast:	n/a	chr2:234160267-234160277
44	MYBL2	chr2:234159571-234160669	HepG2	liver:	n/a	n/a
45	MXI1	chr2:234159746-234161768	SK-N-SH	brain:	n/a	n/a
46	RAD21	chr2:234159770-234160530	H1-hESC	embryonic stem cell:	n/a	chr2:234160129-234160143 chr2:234159797-234159806
47	SIN3A	chr2:234159742-234161210	H1-hESC	embryonic stem cell:	n/a	n/a
48	PML	chr2:234159669-234160667	GM12878	blood:	n/a	n/a
49	MTA3	chr2:234159638-234160824	GM12878	blood:	n/a	n/a
50	ATF2	chr2:234159709-234160453	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:233738643..233740986-chr2:234158854..234161597,2	MCF-7	breast:
2	chr2:233470493..233471429-chr2:234159719..234160494,2	MCF-7	breast:
3	chr2:233470644..233471279-chr2:234159696..234160503,2	K562	blood:
4	chr2:233720253..233722044-chr2:234158922..234161619,2	MCF-7	breast:
5	chr2:234159356..234161467-chr2:234246206..234249085,2	MCF-7	breast:
6	chr2:234159075..234160799-chr2:234195887..234199490,3	MCF-7	breast:

Variant related genes	Relation type
ATG16L1	TF binding region
ENSG00000182600	Chromatin interaction
ENSG00000115468	Chromatin interaction
ENSG00000251791	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000130561	Chromatin interaction

rs_ID	r²[population]
rs13386783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390554	0.83[AMR][1000 genomes]
rs13409759	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13427255	0.85[AMR][1000 genomes]
rs57929619	0.85[AMR][1000 genomes]
rs73110050	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73112047	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114277	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9973722	0.83[AMR][1000 genomes]

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234151200-234159800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:234155200-234159800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr2:234155600-234159800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:234155800-234159800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:234155800-234159800	Enhancers	Primary T cells from cord blood	blood
6	chr2:234156200-234159800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:234156200-234160200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:234156400-234159800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:234156600-234159800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:234156800-234159800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:234157000-234159800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:234157000-234159800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:234157000-234159800	Weak transcription	A549	lung
14	chr2:234157000-234159800	Weak transcription	Hela-S3	cervix
15	chr2:234157000-234160200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:234157200-234159800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:234157200-234159800	Weak transcription	HMEC	breast
18	chr2:234157400-234160000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:234157600-234159800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:234157600-234159800	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:234157600-234159800	Enhancers	Fetal Thymus	thymus
22	chr2:234157600-234159800	Weak transcription	NHEK	skin
23	chr2:234157800-234160000	Weak transcription	Aorta	Aorta
24	chr2:234158000-234159800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:234158000-234159800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:234158200-234159800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:234158600-234159800	Weak transcription	Thymus	Thymus
28	chr2:234158800-234159800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:234158800-234159800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:234159000-234160000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:234159000-234160000	ZNF genes & repeats	K562	blood
32	chr2:234159200-234159800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr2:234159200-234160000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:234159200-234160000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr2:234159400-234159800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr2:234159400-234159800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr2:234159400-234159800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr2:234159400-234159800	Enhancers	Dnd41	blood
39	chr2:234159400-234160200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:234159600-234159800	Enhancers	Primary B cells from cord blood	blood
41	chr2:234159600-234159800	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:234159600-234159800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:234159600-234159800	Enhancers	Liver	Liver
44	chr2:234159600-234159800	Enhancers	Fetal Muscle Leg	muscle
45	chr2:234159600-234159800	Enhancers	Stomach Mucosa	stomach
46	chr2:234159600-234159800	Enhancers	Spleen	Spleen
47	chr2:234159600-234159800	Enhancers	HepG2	liver
48	chr2:234159600-234159800	Enhancers	HUVEC	blood vessel
49	chr2:234159600-234159800	Enhancers	NH-A	brain
50	chr2:234159600-234160000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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