Variant report

Variant	rs73926988
Chromosome Location	chr2:47171440-47171441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr2:47170996-47171553	GM12878	blood:	n/a	chr2:47171253-47171262
2	PML	chr2:47170238-47171843	GM12878	blood:	n/a	n/a
3	BCLAF1	chr2:47170815-47171789	GM12878	blood:	n/a	chr2:47171253-47171262
4	ATF2	chr2:47171000-47171729	GM12878	blood:	n/a	n/a
5	FOXM1	chr2:47170404-47171603	GM12878	blood:	n/a	n/a
6	RELA	chr2:47170344-47171702	GM19099	blood:	n/a	n/a
7	TBL1XR1	chr2:47171113-47171494	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:47169934-47171448	GM12892	blood:	n/a	n/a
9	STAT5A	chr2:47170996-47171806	GM12878	blood:	n/a	n/a
10	NFATC1	chr2:47170896-47171620	GM12878	blood:	n/a	n/a
11	STAT5A	chr2:47171083-47171773	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:47170194-47171484	GM12892	blood:	n/a	n/a
13	POLR2A	chr2:47168094-47171520	GM12878	blood:	n/a	n/a
14	NFIC	chr2:47170791-47171793	GM12878	blood:	n/a	n/a
15	EP300	chr2:47170918-47171487	GM12878	blood:	n/a	n/a
16	SP1	chr2:47171114-47171559	GM12878	blood:	n/a	n/a
17	SP1	chr2:47170989-47171498	GM12878	blood:	n/a	n/a
18	WRNIP1	chr2:47170350-47171496	GM12878	blood:	n/a	n/a
19	RUNX3	chr2:47170251-47171811	GM12878	blood:	n/a	n/a
20	RELA	chr2:47170635-47171543	GM18951	blood:	n/a	n/a
21	BCLAF1	chr2:47170998-47171824	GM12878	blood:	n/a	chr2:47171253-47171262
22	RELA	chr2:47170644-47171592	GM12878	blood:	n/a	n/a
23	RELA	chr2:47170558-47171714	GM18505	blood:	n/a	n/a
24	STAT3	chr2:47171027-47171465	GM12878	blood:	n/a	n/a
25	CEBPB	chr2:47170856-47171690	GM12878	blood:	n/a	n/a
26	ATF2	chr2:47170833-47171685	GM12878	blood:	n/a	n/a
27	TBP	chr2:47170793-47171547	GM12878	blood:	n/a	n/a
28	MAZ	chr2:47170990-47171497	GM12878	blood:	n/a	n/a
29	RELA	chr2:47170580-47171561	GM12892	blood:	n/a	n/a
30	ZNF384	chr2:47170996-47171765	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:47168084-47171676	GM12878	blood:	n/a	n/a
32	BATF	chr2:47171013-47171486	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:47168238-47171702	GM12891	blood:	n/a	n/a
34	RCOR1	chr2:47171006-47171732	GM12878	blood:	n/a	n/a
35	MTA3	chr2:47170073-47172114	GM12878	blood:	n/a	n/a
36	RELA	chr2:47170898-47171450	GM19193	blood:	n/a	n/a
37	NFIC	chr2:47170658-47171667	GM12878	blood:	n/a	n/a
38	PAX5	chr2:47170911-47171534	GM12878	blood:	n/a	n/a
39	RELA	chr2:47168062-47171777	GM12891	blood:	n/a	n/a
40	FOXM1	chr2:47170800-47171660	GM12878	blood:	n/a	n/a
41	RELA	chr2:47170465-47171741	GM15510	blood:	n/a	n/a
42	CHD1	chr2:47170330-47171658	GM12878	blood:	n/a	n/a
43	NFATC1	chr2:47170728-47171509	GM12878	blood:	n/a	n/a
44	RELA	chr2:47170738-47171729	GM10847	blood:	n/a	n/a
45	RUNX3	chr2:47170164-47171746	GM12878	blood:	n/a	n/a
46	IRF4	chr2:47170941-47171495	GM12878	blood:	n/a	n/a
47	POLR2A	chr2:47168586-47171994	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:47170429-47171464	GM12878	blood:	n/a	n/a
49	MTA3	chr2:47170948-47171487	GM12878	blood:	n/a	n/a
50	BATF	chr2:47171062-47171467	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47171414-47171464	ovcar-3	ovarian:	n/a
2	chr2:47171414-47171464	NH-A	brain:	n/a
3	chr2:47171414-47171464	HEEpiC	esophagus:	n/a
4	chr2:47171414-47171464	AG10803	skin:	n/a
5	chr2:47171414-47171464	AG04449	skin:	fetal
6	chr2:47171414-47171464	HMEC	breast:	n/a
7	chr2:47171414-47171464	BJ	skin:	n/a
8	chr2:47171414-47171464	ProgFib	skin:	n/a
9	chr2:47171414-47171464	HRE	kidney:	n/a
10	chr2:47171414-47171464	CMK	blood:	n/a
11	chr2:47171414-47171464	GM12891	blood:	n/a
12	chr2:47171414-47171464	HIPEpiC	eye:	n/a
13	chr2:47171414-47171464	PFSK-1	brain:	n/a
14	chr2:47171414-47171464	GM06990	blood:	n/a
15	chr2:47171414-47171464	IMR90	lung:	fetal
16	chr2:47171414-47171464	NHBE	bronchial:	n/a
17	chr2:47171414-47171464	AG04450	lung:	fetal
18	chr2:47171414-47171464	NT2-D1	testis:	n/a
19	chr2:47171414-47171464	Hepatocyte	liver:	n/a
20	chr2:47171414-47171464	A549	lung:	n/a
21	chr2:47171414-47171464	HCM	heart:	n/a
22	chr2:47171414-47171464	SK-N-SH_RA	brain:	n/a
23	chr2:47171414-47171464	NB4	blood:	n/a
24	chr2:47171414-47171464	HCPEpiC	choroid plexus:	n/a
25	chr2:47171414-47171464	RPTEC	kidney:	n/a
26	chr2:47171414-47171464	AG09319	gingival:	n/a
27	chr2:47171414-47171464	SK-N-MC	brain:	n/a
28	chr2:47171414-47171464	PANC-1	pancreas:	n/a
29	chr2:47171414-47171464	Hela-S3	cervix:	n/a
30	chr2:47171414-47171464	HNPCEpiC	eye:	n/a
31	chr2:47171414-47171464	AG09309	skin:	n/a
32	chr2:47171414-47171464	HCT-116	colon:	n/a
33	chr2:47171414-47171464	U87	brain:	n/a
34	chr2:47171414-47171464	GM12892	blood:	n/a
35	chr2:47171414-47171464	LNCaP	prostate:	n/a
36	chr2:47171414-47171464	PrEC	prostate:	n/a
37	chr2:47171414-47171464	SK-N-SH	brain:	n/a
38	chr2:47171414-47171464	HUVEC	blood vessel:	n/a
39	chr2:47171414-47171464	GM19239	blood:	n/a
40	chr2:47171414-47171464	H1-hESC	embryonic stem cell:	embryo
41	chr2:47171414-47171464	BE2_C	brain:	n/a
42	chr2:47171414-47171464	HRPEpiC	eye:	n/a
43	chr2:47171414-47171464	MCF-7	breast:	n/a
44	chr2:47171414-47171464	AoSMC	blood vessel:	n/a
45	chr2:47171414-47171464	HAEpiC	amniotic membrane:	n/a
46	chr2:47171414-47171464	T-47D	breast:	n/a
47	chr2:47171414-47171464	HEK293	kidney:	embryo
48	chr2:47171414-47171464	HCF	heart:	n/a
49	chr2:47171414-47171464	GM12878	blood:	n/a
50	chr2:47171414-47171464	HRCEpiC	kidney:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47170300..47176373-chr2:47180929..47185322,6	MCF-7	breast:
2	chr2:47168340..47172583-chr2:47183123..47189203,6	MCF-7	breast:

No data

Variant related genes	Relation type
MCFD2	TF binding region
MCFD2	CpG island
ENSG00000272814	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10084332	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10164756	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10165085	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10181411	0.92[AMR][1000 genomes]
rs10186980	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11897050	0.95[EUR][1000 genomes]
rs13391660	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13398748	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13406024	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13407588	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13409489	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13417753	0.95[EUR][1000 genomes]
rs13424086	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13430346	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13430703	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17035878	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17035912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28405928	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28465613	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28529158	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28612371	0.95[EUR][1000 genomes]
rs28770495	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4300885	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4314044	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4583513	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6729569	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755386	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73926967	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73926970	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73926978	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73926980	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73926983	1.00[EUR][1000 genomes]
rs73926986	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7577816	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7603884	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9973769	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169000-47171600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr2:47169400-47171800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr2:47169400-47178800	Weak transcription	Ovary	ovary
4	chr2:47169400-47179000	Weak transcription	Gastric	stomach
5	chr2:47169600-47171600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:47169600-47172000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:47169600-47172800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:47169600-47175000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:47169600-47177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:47169600-47177600	Weak transcription	Left Ventricle	heart
11	chr2:47169600-47178800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:47169600-47183600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:47169800-47171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:47169800-47171600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:47169800-47171600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:47169800-47171800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
17	chr2:47169800-47172800	Weak transcription	Fetal Heart	heart
18	chr2:47169800-47177600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:47169800-47177600	Weak transcription	Fetal Lung	lung
20	chr2:47169800-47178200	Weak transcription	Fetal Brain Female	brain
21	chr2:47169800-47182000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:47169800-47182200	Weak transcription	Right Ventricle	heart
23	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
24	chr2:47170000-47171600	Enhancers	Placenta	Placenta
25	chr2:47170000-47171800	Enhancers	Pancreas	Pancrea
26	chr2:47170000-47171800	Enhancers	Spleen	Spleen
27	chr2:47170000-47177000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:47170000-47177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:47170000-47177600	Weak transcription	Esophagus	oesophagus
30	chr2:47170000-47177800	Weak transcription	Liver	Liver
31	chr2:47170000-47177800	Weak transcription	NH-A	brain
32	chr2:47170000-47178800	Weak transcription	HSMMtube	muscle
33	chr2:47170000-47181600	Weak transcription	HUVEC	blood vessel
34	chr2:47170000-47182200	Weak transcription	Psoas Muscle	Psoas
35	chr2:47170200-47172200	Weak transcription	Fetal Intestine Small	intestine
36	chr2:47170200-47177600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:47170200-47181400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:47170400-47177400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:47170600-47171600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:47170600-47171800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:47170600-47171800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:47170600-47171800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:47170600-47171800	Enhancers	Right Atrium	heart
44	chr2:47170600-47171800	Strong transcription	NHEK	skin
45	chr2:47170600-47173400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:47170600-47173400	Weak transcription	HMEC	breast
47	chr2:47170600-47178800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:47170800-47171800	Enhancers	Brain Substantia Nigra	brain
49	chr2:47170800-47173000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:47170800-47173400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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