Variant report

Variant	rs73945532
Chromosome Location	chr2:86113867-86113868
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	NFIC	chr2:86113520-86114302	SK-N-SH	brain:	n/a	n/a
2	ZKSCAN1	chr2:86113758-86113912	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:86113701-86114143	MCF10A-Er-Src	breast:	n/a	n/a
4	JUND	chr2:86113714-86114069	A549	lung:	n/a	chr2:86113776-86113785
5	TBL1XR1	chr2:86113743-86113887	GM12878	blood:	n/a	n/a
6	MAX	chr2:86113700-86113983	K562	blood:	n/a	n/a
7	MAX	chr2:86113548-86114084	K562	blood:	n/a	n/a
8	MYC	chr2:86113762-86113957	HUVEC	blood vessel:	n/a	n/a
9	FOS	chr2:86113688-86114054	MCF10A-Er-Src	breast:	n/a	chr2:86113776-86113785 chr2:86113872-86113883
10	MXI1	chr2:86112995-86117346	IMR90	lung:	n/a	n/a
11	MYC	chr2:86113628-86114031	NB4	blood:	n/a	n/a
12	MAX	chr2:86113503-86115849	A549	lung:	n/a	n/a
13	RAD21	chr2:86113728-86114076	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr2:86113863-86113870	GM12878	blood:	n/a	n/a
15	USF1	chr2:86113621-86114064	SK-N-SH	brain:	n/a	n/a
16	E2F4	chr2:86113700-86113970	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr2:86113616-86113980	K562	blood:	n/a	n/a
18	CBX3	chr2:86113593-86114058	K562	blood:	n/a	n/a
19	FOSL2	chr2:86113578-86114259	SK-N-SH	brain:	n/a	chr2:86113776-86113785
20	BHLHE40	chr2:86113576-86114105	K562	blood:	n/a	n/a
21	JUND	chr2:86113698-86114037	K562	blood:	n/a	chr2:86113776-86113785
22	CTCF	chr2:86113840-86113990	GM12865	blood:	n/a	n/a
23	BCL3	chr2:86113677-86114651	A549	lung:	n/a	n/a
24	FOS	chr2:86113669-86114050	MCF10A-Er-Src	breast:	n/a	chr2:86113776-86113785 chr2:86113872-86113883
25	MAX	chr2:86113538-86114253	SK-N-SH	brain:	n/a	n/a
26	MXI1	chr2:86113603-86113977	GM12878	blood:	n/a	n/a
27	FOS	chr2:86113661-86114094	HUVEC	blood vessel:	n/a	chr2:86113776-86113785 chr2:86113872-86113883
28	EP300	chr2:86113468-86114298	SK-N-SH	brain:	n/a	n/a
29	SIN3AK20	chr2:86113578-86114073	SK-N-SH	brain:	n/a	n/a
30	RUNX3	chr2:86113708-86114029	GM12878	blood:	n/a	n/a
31	MAFK	chr2:86113806-86114096	K562	blood:	n/a	n/a
32	POLR2A	chr2:86113571-86114192	SK-N-SH	brain:	n/a	n/a
33	BHLHE40	chr2:86113614-86113978	GM12878	blood:	n/a	n/a
34	SP1	chr2:86113552-86114131	A549	lung:	n/a	n/a
35	MAX	chr2:86113570-86114158	MCF-7	breast:	n/a	n/a
36	POLR2A	chr2:86113770-86114049	SK-N-SH	brain:	n/a	n/a
37	MAX	chr2:86113505-86114263	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr2:86113613-86114228	IMR90	lung:	n/a	n/a
39	MAX	chr2:86113663-86113967	A549	lung:	n/a	n/a
40	SIN3AK20	chr2:86113660-86113970	SK-N-SH	brain:	n/a	n/a
41	STAT3	chr2:86113848-86114037	MCF10A-Er-Src	breast:	n/a	n/a
42	GATA3	chr2:86113563-86114272	SK-N-SH	brain:	n/a	n/a
43	MAX	chr2:86113708-86113938	GM12878	blood:	n/a	n/a
44	TEAD4	chr2:86113561-86113995	K562	blood:	n/a	n/a
45	MAX	chr2:86113638-86114023	NB4	blood:	n/a	n/a
46	WRNIP1	chr2:86113446-86115563	GM12878	blood:	n/a	n/a
47	CTCF	chr2:86113541-86117024	A549	lung:	n/a	chr2:86116282-86116295 chr2:86114925-86114943 chr2:86114928-86114941 chr2:86114927-86114948 chr2:86116280-86116298 chr2:86114314-86114322 chr2:86114930-86114940
48	MAX	chr2:86112960-86118329	A549	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
49	E2F6	chr2:86113682-86113932	K562	blood:	n/a	n/a
50	TCF12	chr2:86113441-86114364	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:86112427..86114541-chr8:128877788..128879604,2	MCF-7	breast:
2	chr2:86112022..86114027-chr2:86114366..86116766,2	MCF-7	breast:
3	chr2:86112101..86114147-chr2:86124119..86126980,2	K562	blood:

Variant related genes	Relation type
ENSG00000232504	TF binding region
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction

rs_ID	r²[population]
rs58854261	1.00[AMR][1000 genomes]
rs73943915	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73943916	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944203	1.00[AMR][1000 genomes]
rs73945523	1.00[AMR][1000 genomes]
rs73945531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9679234	1.00[AMR][1000 genomes]

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86075400-86114000	Weak transcription	Aorta	Aorta
2	chr2:86102800-86115200	Weak transcription	Small Intestine	intestine
3	chr2:86106400-86115200	Weak transcription	Gastric	stomach
4	chr2:86111000-86114000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:86111000-86114000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:86111000-86114600	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:86111400-86114000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:86111600-86114000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:86111600-86114000	Enhancers	NHDF-Ad	bronchial
10	chr2:86111600-86114200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:86111800-86114000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:86111800-86114000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:86111800-86114000	Enhancers	K562	blood
14	chr2:86111800-86114000	Enhancers	Osteobl	bone
15	chr2:86112000-86114600	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:86112000-86114600	Enhancers	Stomach Mucosa	stomach
17	chr2:86112200-86114400	Genic enhancers	Primary B cells from cord blood	blood
18	chr2:86112200-86114600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:86112200-86114600	Enhancers	Liver	Liver
20	chr2:86112200-86114600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:86112400-86114000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:86112400-86114200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:86112400-86114200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:86112400-86114400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:86112400-86114600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:86112400-86115000	Enhancers	Spleen	Spleen
27	chr2:86112800-86114000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:86113000-86114000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:86113000-86114000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:86113000-86114000	Enhancers	Colonic Mucosa	Colon
31	chr2:86113000-86114200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:86113000-86114400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:86113000-86115000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr2:86113000-86115000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr2:86113000-86115400	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr2:86113000-86115600	Flanking Active TSS	Dnd41	blood
37	chr2:86113200-86114000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:86113200-86114000	Enhancers	NHLF	lung
39	chr2:86113200-86114600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr2:86113200-86114600	Active TSS	Duodenum Mucosa	Duodenum
41	chr2:86113200-86114800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr2:86113200-86115000	Flanking Active TSS	A549	lung
43	chr2:86113400-86114000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:86113400-86114000	Enhancers	Placenta	Placenta
45	chr2:86113400-86114200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr2:86113400-86114200	Enhancers	Ovary	ovary
47	chr2:86113400-86114800	Enhancers	HUVEC	blood vessel
48	chr2:86113400-86115000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr2:86113400-86115600	Flanking Active TSS	HSMM	muscle
50	chr2:86113600-86114200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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