Variant report

Variant	rs10196596
Chromosome Location	chr2:191393482-191393483
allele	A/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	SMC3	chr2:191393364-191393776	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:191393282-191393864	ECC-1	luminal epithelium:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
3	CEBPB	chr2:191393226-191393842	HCT-116	colon:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
4	FOS	chr2:191393394-191393759	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr2:191393405-191393701	K562	blood:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
6	TEAD4	chr2:191393009-191393973	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:191393248-191393779	MCF-7	breast:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
8	MAX	chr2:191393288-191393818	Hela-S3	cervix:	n/a	chr2:191393570-191393579 chr2:191393311-191393321
9	CEBPB	chr2:191393292-191393897	HepG2	liver:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
10	GTF2F1	chr2:191393076-191393816	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr2:191393318-191393771	HepG2	liver:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
12	CHD2	chr2:191393291-191393748	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr2:191393384-191393831	Hela-S3	cervix:	n/a	n/a
14	FOS	chr2:191393382-191393818	MCF10A-Er-Src	breast:	n/a	n/a
15	HDAC2	chr2:191393083-191393816	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:191393350-191393799	K562	blood:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
17	REST	chr2:191393276-191393524	GM12878	blood:	n/a	n/a
18	CEBPB	chr2:191393300-191393803	K562	blood:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
19	JUN	chr2:191393400-191393811	HepG2	liver:	n/a	chr2:191393567-191393580
20	JUND	chr2:191393384-191393835	HepG2	liver:	n/a	n/a
21	MYBL2	chr2:191393231-191393834	HepG2	liver:	n/a	n/a
22	SPI1	chr2:191393231-191393589	GM12878	blood:	n/a	n/a
23	JUND	chr2:191393466-191393837	K562	blood:	n/a	n/a
24	REST	chr2:191393222-191393579	GM12878	blood:	n/a	n/a
25	SP1	chr2:191393207-191393833	A549	lung:	n/a	n/a
26	EP300	chr2:191393472-191393675	K562	blood:	n/a	chr2:191393567-191393581
27	CEBPB	chr2:191393326-191393847	IMR90	lung:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
28	FOXA2	chr2:191393146-191393764	HepG2	liver:	n/a	n/a
29	FOS	chr2:191393384-191393788	MCF10A-Er-Src	breast:	n/a	n/a
30	FOXA1	chr2:191393185-191393820	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:191392974-191393844	HepG2	liver:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
32	EP300	chr2:191393406-191393802	HepG2	liver:	n/a	chr2:191393567-191393581
33	EP300	chr2:191393302-191393808	Hela-S3	cervix:	n/a	chr2:191393567-191393581
34	MYC	chr2:191393279-191393742	MCF10A-Er-Src	breast:	n/a	chr2:191393570-191393579 chr2:191393311-191393321
35	CEBPB	chr2:191393422-191393805	H1-hESC	embryonic stem cell:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
36	SPI1	chr2:191393264-191393547	GM12891	blood:	n/a	n/a
37	FOS	chr2:191393375-191393811	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr2:191393197-191393938	A549	lung:	n/a	chr2:191393567-191393581
39	HDAC2	chr2:191393356-191393709	HepG2	liver:	n/a	n/a
40	CEBPB	chr2:191393199-191393836	HepG2	liver:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
41	USF2	chr2:191393343-191393709	Hela-S3	cervix:	n/a	n/a
42	MYC	chr2:191393285-191393788	MCF10A-Er-Src	breast:	n/a	chr2:191393570-191393579 chr2:191393311-191393321
43	SPI1	chr2:191393220-191393559	HL-60	blood:	n/a	n/a
44	NFIC	chr2:191393356-191393748	HepG2	liver:	n/a	n/a
45	REST	chr2:191393200-191393802	A549	lung:	n/a	n/a
46	CEBPB	chr2:191393183-191393898	A549	lung:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
47	CEBPB	chr2:191393360-191393743	MCF-7	breast:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582
48	SPI1	chr2:191393219-191393641	HL-60	blood:	n/a	n/a
49	STAT3	chr2:191393440-191393766	MCF10A-Er-Src	breast:	n/a	n/a
50	CEBPB	chr2:191393315-191393836	A549	lung:	n/a	chr2:191393472-191393485 chr2:191393472-191393483 chr2:191393472-191393483 chr2:191393570-191393581 chr2:191393569-191393582

No.	Distal block	Cell Line	Cell type
1	chr2:191390804..191394615-chr2:191510978..191513214,3	MCF-7	breast:
2	chr2:191384935..191386487-chr2:191391629..191394341,2	MCF-7	breast:
3	chr2:191393388..191396315-chr2:191446782..191449171,2	K562	blood:
4	chr2:191387143..191390084-chr2:191391870..191394145,2	K562	blood:

Variant related genes	Relation type
TMEM194B	TF binding region
ENSG00000138386	Chromatin interaction
ENSG00000189362	Chromatin interaction

rs_ID	r²[population]
rs13399195	0.85[AFR][1000 genomes]
rs13421959	1.00[AFR][1000 genomes]

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191334800-191394800	Weak transcription	HSMMtube	muscle
2	chr2:191349600-191394600	Weak transcription	NHLF	lung
3	chr2:191354600-191394600	Weak transcription	HSMM	muscle
4	chr2:191357200-191398200	Weak transcription	Fetal Kidney	kidney
5	chr2:191362800-191398200	Weak transcription	Fetal Brain Male	brain
6	chr2:191365200-191398000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:191365800-191397400	Weak transcription	Liver	Liver
8	chr2:191369000-191394400	Weak transcription	Aorta	Aorta
9	chr2:191370800-191394400	Weak transcription	A549	lung
10	chr2:191372000-191394600	Weak transcription	Brain Anterior Caudate	brain
11	chr2:191372200-191394600	Weak transcription	Brain Substantia Nigra	brain
12	chr2:191375200-191398600	Weak transcription	Ovary	ovary
13	chr2:191376000-191397800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:191378400-191394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:191378800-191394400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:191378800-191394400	Weak transcription	Fetal Stomach	stomach
17	chr2:191379400-191394000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:191379400-191394000	Weak transcription	Left Ventricle	heart
19	chr2:191379400-191397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:191379400-191398200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:191381600-191394000	Weak transcription	Fetal Lung	lung
22	chr2:191382600-191398400	Weak transcription	Psoas Muscle	Psoas
23	chr2:191383400-191394800	Weak transcription	NHDF-Ad	bronchial
24	chr2:191385000-191394000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:191385400-191397200	Weak transcription	Thymus	Thymus
26	chr2:191385600-191394400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:191385600-191396000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:191385800-191394200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:191385800-191394600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:191386000-191394000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:191386000-191394600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:191386200-191394800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:191386600-191394600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:191386800-191394000	Weak transcription	Fetal Heart	heart
35	chr2:191386800-191394400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:191387400-191398600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:191389600-191394000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:191390000-191394400	Weak transcription	Dnd41	blood
39	chr2:191390400-191395800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:191390800-191394800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr2:191390800-191397400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:191391000-191394000	Weak transcription	Gastric	stomach
43	chr2:191391000-191397200	Enhancers	Primary T cells from cord blood	blood
44	chr2:191391200-191394000	Weak transcription	Lung	lung
45	chr2:191391200-191394400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:191391200-191398400	Weak transcription	Small Intestine	intestine
47	chr2:191391200-191398600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:191392400-191395600	Enhancers	Hela-S3	cervix
49	chr2:191392400-191396000	Enhancers	HepG2	liver
50	chr2:191392400-191397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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