Variant report

Variant	rs72905084
Chromosome Location	chr4:99850284-99850285
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	TCF12	chr4:99849142-99851538	A549	lung:	n/a	chr4:99851483-99851493
2	CTCF	chr4:99850180-99850330	HRPEpiC	eye:	n/a	n/a
3	STAT3	chr4:99850249-99850571	MCF10A-Er-Src	breast:	n/a	chr4:99850421-99850432 chr4:99850423-99850431 chr4:99850417-99850437
4	MAZ	chr4:99849208-99851675	GM12878	blood:	n/a	chr4:99850500-99850513 chr4:99850501-99850512 chr4:99850349-99850358 chr4:99850502-99850511 chr4:99850348-99850359 chr4:99850349-99850358 chr4:99850502-99850511
5	NFYA	chr4:99850162-99850674	Hela-S3	cervix:	n/a	chr4:99850324-99850342
6	E2F4	chr4:99849760-99851197	K562	blood:	n/a	chr4:99850323-99850332 chr4:99850019-99850028
7	USF1	chr4:99849767-99851178	ECC-1	luminal epithelium:	n/a	chr4:99850373-99850389
8	CBX3	chr4:99850100-99850760	K562	blood:	n/a	n/a
9	POLR2A	chr4:99849153-99851388	K562	blood:	n/a	n/a
10	POLR2A	chr4:99849143-99850799	H1-neurons	neurons:	n/a	n/a
11	ELF1	chr4:99849851-99850891	MCF-7	breast:	n/a	chr4:99850304-99850315
12	CTCF	chr4:99850240-99850390	GM12878	blood:	n/a	n/a
13	IRF1	chr4:99849911-99851278	K562	blood:	n/a	chr4:99850427-99850436
14	SP4	chr4:99849988-99850705	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF1	chr4:99850108-99850747	HepG2	liver:	n/a	chr4:99850373-99850389
16	GTF2F1	chr4:99849986-99850710	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:99849077-99851453	GM12892	blood:	n/a	n/a
18	CTCF	chr4:99850240-99850390	HPF	lung:	n/a	n/a
19	PAX5	chr4:99849566-99850303	GM12892	blood:	n/a	n/a
20	POLR2A	chr4:99849178-99851391	GM12892	blood:	n/a	n/a
21	POLR2A	chr4:99848809-99851484	GM12891	blood:	n/a	n/a
22	ATF1	chr4:99850166-99850726	K562	blood:	n/a	n/a
23	MXI1	chr4:99848834-99852022	IMR90	lung:	n/a	chr4:99850350-99850359 chr4:99850501-99850510
24	ZNF143	chr4:99849133-99851262	K562	blood:	n/a	chr4:99850420-99850438
25	POLR2A	chr4:99849276-99851341	Gliobla	brain:	n/a	n/a
26	EP300	chr4:99849661-99850382	A549	lung:	n/a	chr4:99849855-99849871
27	CTCF	chr4:99850240-99850390	HA-sp	spinal cord:	n/a	n/a
28	ATF3	chr4:99850134-99850571	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr4:99849231-99850428	GM12878	blood:	n/a	n/a
30	STAT3	chr4:99850223-99851364	MCF10A-Er-Src	breast:	n/a	chr4:99851324-99851333 chr4:99850421-99850432 chr4:99850423-99850431 chr4:99850417-99850437
31	E2F6	chr4:99849139-99851032	H1-hESC	embryonic stem cell:	n/a	chr4:99850323-99850332 chr4:99849144-99849161 chr4:99850019-99850028
32	YY1	chr4:99849811-99850801	H1-hESC	embryonic stem cell:	n/a	chr4:99850017-99850028 chr4:99850255-99850267
33	NFIC	chr4:99850038-99850970	HepG2	liver:	n/a	n/a
34	CTCF	chr4:99850254-99850370	Spleen_OC	spleen:	n/a	n/a
35	TBL1XR1	chr4:99849252-99850817	K562	blood:	n/a	n/a
36	CEBPD	chr4:99849948-99850717	HepG2	liver:	n/a	n/a
37	CTCF	chr4:99850261-99850344	HepG2	liver:	n/a	n/a
38	YY1	chr4:99849812-99850454	NT2-D1	testis:	n/a	chr4:99850017-99850028 chr4:99850255-99850267
39	ZNF143	chr4:99849203-99851428	GM12878	blood:	n/a	chr4:99850420-99850438
40	SIX5	chr4:99850118-99850574	K562	blood:	n/a	n/a
41	MYC	chr4:99849210-99850629	K562	blood:	n/a	chr4:99850500-99850513 chr4:99850501-99850512 chr4:99850349-99850358 chr4:99850502-99850511 chr4:99850348-99850359 chr4:99850349-99850358 chr4:99850502-99850511
42	YY1	chr4:99849850-99850644	HCT-116	colon:	n/a	chr4:99850017-99850028 chr4:99850255-99850267
43	RCOR1	chr4:99849224-99851586	K562	blood:	n/a	n/a
44	TAF1	chr4:99849981-99850803	MCF-7	breast:	n/a	n/a
45	SIX5	chr4:99850019-99850598	K562	blood:	n/a	n/a
46	POLR2A	chr4:99849185-99851227	MCF-7	breast:	n/a	n/a
47	MAX	chr4:99849055-99851539	A549	lung:	n/a	chr4:99850500-99850513 chr4:99850501-99850512 chr4:99850349-99850358 chr4:99850502-99850511 chr4:99850348-99850359 chr4:99850349-99850358 chr4:99850502-99850511
48	STAT5A	chr4:99849142-99851532	GM12878	blood:	n/a	chr4:99851324-99851333 chr4:99849231-99849238 chr4:99850423-99850431 chr4:99849225-99849236 chr4:99850417-99850437
49	SIN3AK20	chr4:99849087-99850757	SK-N-SH	brain:	n/a	n/a
50	ZC3H11A	chr4:99850006-99851365	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:99850258-99850308	SK-N-MC	brain:	n/a
2	chr4:99850251-99850301	Jurkat	blood:	n/a
3	chr4:99850251-99850301	CMK	blood:	n/a
4	chr4:99850258-99850308	GM19239	blood:	n/a
5	chr4:99850251-99850301	NHBE	bronchial:	n/a
6	chr4:99850271-99850321	SK-N-SH_RA	brain:	n/a
7	chr4:99850258-99850308	HCT-116	colon:	n/a
8	chr4:99850251-99850301	HCM	heart:	n/a
9	chr4:99850258-99850308	SKMC	muscle:	n/a
10	chr4:99850258-99850308	HCPEpiC	choroid plexus:	n/a
11	chr4:99850271-99850321	HepG2	liver:	n/a
12	chr4:99850251-99850301	T-47D	breast:	n/a
13	chr4:99850271-99850321	AG04450	lung:	fetal
14	chr4:99850251-99850301	AG10803	skin:	n/a
15	chr4:99850271-99850321	IMR90	lung:	fetal
16	chr4:99850258-99850308	SK-N-SH_RA	brain:	n/a
17	chr4:99850251-99850301	HNPCEpiC	eye:	n/a
18	chr4:99850258-99850308	GM12891	blood:	n/a
19	chr4:99850251-99850301	SKMC	muscle:	n/a
20	chr4:99850271-99850321	BE2_C	brain:	n/a
21	chr4:99850251-99850301	NB4	blood:	n/a
22	chr4:99850251-99850301	HepG2	liver:	n/a
23	chr4:99850251-99850301	BJ	skin:	n/a
24	chr4:99850258-99850308	BJ	skin:	n/a
25	chr4:99850251-99850301	ProgFib	skin:	n/a
26	chr4:99850271-99850321	SAEC	small airway:	n/a
27	chr4:99850271-99850321	A549	lung:	n/a
28	chr4:99850271-99850321	GM12878	blood:	n/a
29	chr4:99850271-99850321	GM12892	blood:	n/a
30	chr4:99850258-99850308	HEEpiC	esophagus:	n/a
31	chr4:99850271-99850321	HEEpiC	esophagus:	n/a
32	chr4:99850271-99850321	PFSK-1	brain:	n/a
33	chr4:99850258-99850308	SAEC	small airway:	n/a
34	chr4:99850251-99850301	MCF10A-Er-Src	breast:	n/a
35	chr4:99850251-99850301	H1-hESC	embryonic stem cell:	embryo
36	chr4:99850271-99850321	AoSMC	blood vessel:	n/a
37	chr4:99850258-99850308	HAEpiC	amniotic membrane:	n/a
38	chr4:99850271-99850321	NT2-D1	testis:	n/a
39	chr4:99850258-99850308	MCF-7	breast:	n/a
40	chr4:99850251-99850301	PFSK-1	brain:	n/a
41	chr4:99850251-99850301	GM12878	blood:	n/a
42	chr4:99850251-99850301	HCPEpiC	choroid plexus:	n/a
43	chr4:99850271-99850321	ovcar-3	ovarian:	n/a
44	chr4:99850271-99850321	PrEC	prostate:	n/a
45	chr4:99850271-99850321	AG04449	skin:	fetal
46	chr4:99850258-99850308	AG10803	skin:	n/a
47	chr4:99850251-99850301	MCF-7	breast:	n/a
48	chr4:99850251-99850301	NT2-D1	testis:	n/a
49	chr4:99850251-99850301	K562	blood:	n/a
50	chr4:99850251-99850301	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:249152846..249153563-chr4:99849544..99850498,2	HCT-116	colon:
2	chr4:99848912..99850641-chr4:99886887..99889818,2	K562	blood:
3	chr4:99848351..99851753-chr4:99915675..99920876,6	MCF-7	breast:
4	chr4:99849107..99853067-chr4:99958393..99961916,5	K562	blood:
5	chr12:46765902..46766852-chr4:99849792..99850426,2	Hela-S3	cervix:
6	chr17:62492668..62495226-chr4:99848900..99851231,2	K562	blood:
7	chr4:99849436..99851753-chr4:99986729..99991688,5	K562	blood:
8	chr4:99821499..99832064-chr4:99845860..99851281,12	MCF-7	breast:
9	chr4:99849574..99853806-chr4:100008192..100011466,4	MCF-7	breast:
10	chr4:99849612..99852371-chr4:100007085..100010224,5	K562	blood:
11	chr4:99846410..99852563-chr4:99914756..99918771,11	MCF-7	breast:
12	chr22:42486289..42486926-chr4:99850147..99850703,2	NB4	blood:
13	chr4:99849385..99851399-chr4:99887411..99889199,2	MCF-7	breast:
14	chr4:99848192..99852255-chr4:100007586..100012546,7	K562	blood:
15	chr11:62618290..62621196-chr4:99849951..99851477,2	K562	blood:
16	chr4:99850217..99850807-chr6:13574209..13575136,2	Hela-S3	cervix:
17	chr4:95373030..95374997-chr4:99848875..99851317,2	K562	blood:
18	chr4:99848722..99851880-chr4:100870275..100872713,4	K562	blood:
19	chr4:99811621..99813284-chr4:99847831..99850392,2	MCF-7	breast:
20	chr4:99848589..99851336-chr4:100870396..100872880,2	MCF-7	breast:
21	chr4:99847842..99851448-chr4:99963294..99966988,3	K562	blood:
22	chr18:44676438..44677089-chr4:99849867..99850574,2	HCT-116	colon:
23	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
24	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:
25	chr4:99848578..99852948-chr4:99876464..99882582,7	K562	blood:

Variant related genes	Relation type
EIF4E	TF binding region
EIF4E	CpG island
ENSG00000249055	Chromatin interaction
ENSG00000252548	Chromatin interaction
ENSG00000265213	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000256525	Chromatin interaction
ENSG00000197894	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000163110	Chromatin interaction
ENSG00000171163	Chromatin interaction
ENSG00000214886	Chromatin interaction
ENSG00000272777	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000227237	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000167220	Chromatin interaction
ENSG00000184983	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs6833875	1.00[AFR][1000 genomes]
rs6846054	0.95[AFR][1000 genomes]
rs72893508	0.82[AFR][1000 genomes]
rs72893532	1.00[AFR][1000 genomes]
rs72893536	1.00[AFR][1000 genomes]
rs72893542	1.00[AFR][1000 genomes]
rs72893550	1.00[AFR][1000 genomes]
rs72893554	1.00[AFR][1000 genomes]
rs72893558	1.00[AFR][1000 genomes]
rs72905040	1.00[AFR][1000 genomes]
rs72905051	1.00[AFR][1000 genomes]
rs72905078	1.00[AFR][1000 genomes]
rs72905087	0.82[AFR][1000 genomes]
rs72906974	0.95[AFR][1000 genomes]
rs72906977	0.95[AFR][1000 genomes]
rs72906984	0.95[AFR][1000 genomes]
rs72906987	0.95[AFR][1000 genomes]
rs72909404	0.86[AFR][1000 genomes]
rs72909452	0.82[AFR][1000 genomes]
rs72909467	0.82[AFR][1000 genomes]
rs7669447	0.82[AFR][1000 genomes]
rs7672509	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99847800-99850800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:99847800-99850800	Active TSS	NH-A	brain
3	chr4:99847800-99851400	Active TSS	Hela-S3	cervix
4	chr4:99847800-99851600	Active TSS	Psoas Muscle	Psoas
5	chr4:99848200-99851200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:99848200-99851400	Active TSS	GM12878-XiMat	blood
7	chr4:99848200-99851400	Active TSS	HMEC	breast
8	chr4:99848400-99850600	Active TSS	NHLF	lung
9	chr4:99848400-99851200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:99848400-99851400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:99848400-99851400	Active TSS	HSMM	muscle
12	chr4:99848400-99851400	Active TSS	K562	blood
13	chr4:99848600-99850400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:99848600-99850600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:99848600-99850600	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr4:99848600-99850800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:99848600-99850800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr4:99848600-99850800	Active TSS	Dnd41	blood
19	chr4:99848600-99851400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:99848600-99851600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr4:99848600-99851800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:99848600-99852000	Active TSS	A549	lung
23	chr4:99848800-99850800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr4:99848800-99850800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:99848800-99850800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:99848800-99850800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:99848800-99850800	Active TSS	Fetal Muscle Trunk	muscle
28	chr4:99848800-99850800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:99848800-99851000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr4:99848800-99851000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr4:99848800-99851000	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr4:99848800-99851000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:99848800-99851000	Active TSS	Stomach Smooth Muscle	stomach
34	chr4:99848800-99851200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr4:99848800-99851400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:99848800-99851400	Active TSS	Rectal Smooth Muscle	rectum
37	chr4:99848800-99851400	Active TSS	HSMMtube	muscle
38	chr4:99848800-99851400	Active TSS	NHDF-Ad	bronchial
39	chr4:99848800-99851600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:99848800-99851600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:99848800-99851600	Active TSS	Right Ventricle	heart
42	chr4:99849000-99850600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr4:99849000-99850800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:99849000-99851000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:99849000-99851000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:99849000-99851000	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr4:99849000-99851000	Active TSS	Aorta	Aorta
48	chr4:99849000-99851200	Active TSS	Duodenum Mucosa	Duodenum
49	chr4:99849000-99851200	Active TSS	Small Intestine	intestine
50	chr4:99849000-99851400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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