Variant report

Variant	rs72909148
Chromosome Location	chr2:38978716-38978717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:557)
CpG islands
(count:61)
Chromatin interactive
region (count:67)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB33	chr2:38977980-38978982	A549	lung:	n/a	n/a
2	SIN3AK20	chr2:38978301-38978970	HepG2	liver:	n/a	n/a
3	ELF1	chr2:38977840-38978994	MCF-7	breast:	n/a	n/a
4	BCLAF1	chr2:38978091-38978889	K562	blood:	n/a	chr2:38978222-38978231
5	POLR2A	chr2:38977184-38979034	Hela-S3	cervix:	n/a	n/a
6	ATF1	chr2:38978259-38978839	K562	blood:	n/a	n/a
7	ELK1	chr2:38978220-38978802	K562	blood:	n/a	n/a
8	PAX5	chr2:38977813-38978900	GM12878	blood:	n/a	chr2:38977824-38977834
9	BHLHE40	chr2:38977775-38979011	HepG2	liver:	n/a	n/a
10	CTBP2	chr2:38978139-38979236	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr2:38977652-38979017	A549	lung:	n/a	chr2:38978008-38978022
12	MAX	chr2:38977272-38978927	Hela-S3	cervix:	n/a	chr2:38977600-38977609 chr2:38978721-38978731 chr2:38978724-38978734
13	SPI1	chr2:38978367-38978769	GM12878	blood:	n/a	n/a
14	MAFK	chr2:38978279-38979053	IMR90	lung:	n/a	n/a
15	MYC	chr2:38977986-38978750	MCF-7	breast:	n/a	chr2:38978721-38978731 chr2:38978724-38978734
16	TRIM28	chr2:38978269-38978759	K562	blood:	n/a	n/a
17	NRF1	chr2:38977172-38978941	SK-N-SH	brain:	n/a	chr2:38978546-38978560 chr2:38978549-38978558 chr2:38978548-38978559 chr2:38978549-38978560
18	POLR2A	chr2:38977017-38979031	U87	brain:	n/a	n/a
19	CEBPB	chr2:38977783-38978877	K562	blood:	n/a	n/a
20	EGR1	chr2:38978103-38978815	K562	blood:	n/a	chr2:38978721-38978734 chr2:38978721-38978734 chr2:38978722-38978732 chr2:38978267-38978276 chr2:38978550-38978559 chr2:38978218-38978231 chr2:38978720-38978735
21	CREB1	chr2:38977750-38979113	K562	blood:	n/a	n/a
22	CEBPB	chr2:38978038-38979327	A549	lung:	n/a	n/a
23	TAF1	chr2:38977469-38979247	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr2:38977345-38979110	MCF-7	breast:	n/a	chr2:38977600-38977609 chr2:38978721-38978731 chr2:38978724-38978734
25	MAX	chr2:38977092-38979186	HCT-116	colon:	n/a	chr2:38977600-38977609 chr2:38978721-38978731 chr2:38978724-38978734
26	CEBPB	chr2:38978328-38978832	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr2:38976565-38978925	GM12878	blood:	n/a	n/a
28	ZBTB33	chr2:38978150-38978716	GM12878	blood:	n/a	n/a
29	ZEB1	chr2:38977924-38978752	GM12878	blood:	n/a	n/a
30	STAT3	chr2:38978396-38978844	MCF10A-Er-Src	breast:	n/a	chr2:38978726-38978738
31	TAF1	chr2:38977523-38978914	HepG2	liver:	n/a	n/a
32	YY1	chr2:38977681-38979266	H1-hESC	embryonic stem cell:	n/a	chr2:38978041-38978049 chr2:38979179-38979190 chr2:38978218-38978232 chr2:38978259-38978269
33	NFATC1	chr2:38976771-38979006	GM12878	blood:	n/a	chr2:38978665-38978678
34	POLR2A	chr2:38969485-38979320	K562	blood:	n/a	n/a
35	CREB1	chr2:38977828-38978906	H1-hESC	embryonic stem cell:	n/a	n/a
36	HDAC2	chr2:38977126-38979047	HepG2	liver:	n/a	n/a
37	CREB1	chr2:38977773-38978948	K562	blood:	n/a	n/a
38	TCF7L2	chr2:38978379-38979182	HEK293	kidney:	n/a	n/a
39	HMGN3	chr2:38977477-38978719	K562	blood:	n/a	n/a
40	NFIC	chr2:38977679-38978979	GM12878	blood:	n/a	n/a
41	EP300	chr2:38977866-38979047	ECC-1	luminal epithelium:	n/a	n/a
42	YY1	chr2:38977804-38978718	K562	blood:	n/a	chr2:38978041-38978049 chr2:38978218-38978232 chr2:38978259-38978269
43	POLR2A	chr2:38977007-38979179	GM12892	blood:	n/a	n/a
44	REST	chr2:38978321-38978753	H1-hESC	embryonic stem cell:	n/a	chr2:38978584-38978592
45	BRCA1	chr2:38978251-38978844	GM12878	blood:	n/a	n/a
46	PBX3	chr2:38977850-38979275	A549	lung:	n/a	n/a
47	FOXA2	chr2:38978052-38978923	A549	lung:	n/a	n/a
48	TAF1	chr2:38978076-38978806	MCF-7	breast:	n/a	n/a
49	MAFF	chr2:38977861-38979032	K562	blood:	n/a	n/a
50	SIN3AK20	chr2:38977107-38979159	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:38978683-38978733	HRCEpiC	kidney:	n/a
2	chr2:38978683-38978733	HIPEpiC	eye:	n/a
3	chr2:38978683-38978733	Jurkat	blood:	n/a
4	chr2:38978683-38978733	AG10803	skin:	n/a
5	chr2:38978683-38978733	GM12878	blood:	n/a
6	chr2:38978683-38978733	ovcar-3	ovarian:	n/a
7	chr2:38978683-38978733	Hela-S3	cervix:	n/a
8	chr2:38978683-38978733	HepG2	liver:	n/a
9	chr2:38978683-38978733	GM06990	blood:	n/a
10	chr2:38978683-38978733	MCF-7	breast:	n/a
11	chr2:38978683-38978733	PrEC	prostate:	n/a
12	chr2:38978683-38978733	ECC-1	luminal epithelium:	n/a
13	chr2:38978683-38978733	SAEC	small airway:	n/a
14	chr2:38978683-38978733	CMK	blood:	n/a
15	chr2:38978683-38978733	IMR90	lung:	fetal
16	chr2:38978683-38978733	HEK293	kidney:	embryo
17	chr2:38978683-38978733	GM12892	blood:	n/a
18	chr2:38978683-38978733	BE2_C	brain:	n/a
19	chr2:38978683-38978733	MCF10A-Er-Src	breast:	n/a
20	chr2:38978683-38978733	HL-60	blood:	n/a
21	chr2:38978683-38978733	HMEC	breast:	n/a
22	chr2:38978683-38978733	HEEpiC	esophagus:	n/a
23	chr2:38978683-38978733	AG04449	skin:	fetal
24	chr2:38978683-38978733	SK-N-SH_RA	brain:	n/a
25	chr2:38978683-38978733	ProgFib	skin:	n/a
26	chr2:38978683-38978733	NT2-D1	testis:	n/a
27	chr2:38978683-38978733	HRE	kidney:	n/a
28	chr2:38978683-38978733	AG04450	lung:	fetal
29	chr2:38978683-38978733	U87	brain:	n/a
30	chr2:38978683-38978733	NHDF-neo	bronchial:	n/a
31	chr2:38978683-38978733	RPTEC	kidney:	n/a
32	chr2:38978683-38978733	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:38978683-38978733	SK-N-SH	brain:	n/a
34	chr2:38978683-38978733	LNCaP	prostate:	n/a
35	chr2:38978683-38978733	HRPEpiC	eye:	n/a
36	chr2:38978683-38978733	NB4	blood:	n/a
37	chr2:38978683-38978733	BJ	skin:	n/a
38	chr2:38978683-38978733	NHBE	bronchial:	n/a
39	chr2:38978683-38978733	SK-N-MC	brain:	n/a
40	chr2:38978683-38978733	K562	blood:	n/a
41	chr2:38978683-38978733	A549	lung:	n/a
42	chr2:38978683-38978733	AG09319	gingival:	n/a
43	chr2:38978683-38978733	HCPEpiC	choroid plexus:	n/a
44	chr2:38978683-38978733	H1-hESC	embryonic stem cell:	embryo
45	chr2:38978683-38978733	GM19239	blood:	n/a
46	chr2:38978683-38978733	HNPCEpiC	eye:	n/a
47	chr2:38978683-38978733	AG09309	skin:	n/a
48	chr2:38978683-38978733	NH-A	brain:	n/a
49	chr2:38978683-38978733	GM12891	blood:	n/a
50	chr2:38978683-38978733	HUVEC	blood vessel:	n/a

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:38978167..38978861-chr6:7910436..7911314,2	Hela-S3	cervix:
2	chr2:38977870..38980067-chr2:42586942..42589703,3	K562	blood:
3	chr2:38694392..38697195-chr2:38976226..38979289,3	K562	blood:
4	chr2:38976823..38979247-chr4:785282..787385,2	MCF-7	breast:
5	chr2:38978146..38978898-chr2:131850755..131851487,2	Hela-S3	cervix:
6	chr2:38819128..38833161-chr2:38974716..38980003,37	K562	blood:
7	chr2:38976936..38979845-chr2:39101241..39105632,7	K562	blood:
8	chr2:38976938..38979508-chr2:39454441..39457000,2	K562	blood:
9	chr2:38816358..38820230-chr2:38976960..38979820,4	MCF-7	breast:
10	chr1:153950141..153951108-chr2:38978080..38978756,2	MCF-7	breast:
11	chr2:38760428..38762981-chr2:38976976..38979591,3	K562	blood:
12	chr2:38977967..38978942-chr2:70520501..70521308,2	Hela-S3	cervix:
13	chr2:38976877..38979785-chr2:39100480..39105632,13	K562	blood:
14	chr2:38976218..38980921-chr2:39003670..39007764,15	K562	blood:
15	chr13:53225264..53227638-chr2:38976930..38979242,2	MCF-7	breast:
16	chr16:31191232..31191922-chr2:38978137..38978907,2	Hela-S3	cervix:
17	chr2:37457826..37459742-chr2:38976926..38979723,2	K562	blood:
18	chr2:38977980..38978897-chr2:122406649..122407552,2	NB4	blood:
19	chr2:38695695..38697543-chr2:38977789..38979361,2	K562	blood:
20	chr2:38976891..38979056-chr2:39028521..39033921,5	MCF-7	breast:
21	chr1:241803496..241804225-chr2:38978064..38978860,2	HCT-116	colon:
22	chr2:38978419..38979154-chr5:132202105..132202761,2	Hela-S3	cervix:
23	chr1:36234620..36235540-chr2:38978035..38978956,2	Hela-S3	cervix:
24	chr2:38977031..38979396-chr2:85765814..85768332,2	K562	blood:
25	chr2:38816516..38836019-chr2:38963690..38980163,62	K562	blood:
26	chr2:38762042..38765801-chr2:38976684..38979922,4	MCF-7	breast:
27	chr2:38976392..38979029-chr2:39027754..39033871,6	K562	blood:
28	chr2:38824074..38831950-chr2:38975822..38980618,12	MCF-7	breast:
29	chr1:147806734..147807332-chr2:38978184..38978806,2	Hela-S3	cervix:
30	chr2:38978307..38979883-chr20:23342389..23345213,2	MCF-7	breast:
31	chr2:38828577..38831705-chr2:38976861..38979916,6	MCF-7	breast:
32	chr2:38812622..38815204-chr2:38976239..38979096,3	K562	blood:
33	chr2:38601699..38605766-chr2:38977040..38979128,3	MCF-7	breast:
34	chr2:38891861..38895889-chr2:38976029..38979857,7	K562	blood:
35	chr2:38978045..38978827-chr4:41992165..41992826,2	Hela-S3	cervix:
36	chr2:38975148..38982473-chr2:39000165..39007764,21	K562	blood:
37	chr2:38976661..38978798-chr2:39083252..39086476,5	MCF-7	breast:
38	chr2:38974221..38979921-chr2:38986851..38994572,21	K562	blood:
39	chr16:70322955..70323883-chr2:38978031..38978813,2	Hela-S3	cervix:
40	chr2:38602255..38605343-chr2:38976114..38979530,4	K562	blood:
41	chr2:38974982..38979904-chr2:39002191..39014206,31	MCF-7	breast:
42	chr2:38978151..38978942-chr9:134000479..134001205,2	Hela-S3	cervix:
43	chr2:38977992..38978771-chr5:41924887..41925635,2	Hela-S3	cervix:
44	chr2:38977122..38981176-chr2:38994666..38999219,6	K562	blood:
45	chr2:38977033..38979904-chr2:47402717..47404547,2	K562	blood:
46	chr2:38892007..38895113-chr2:38976994..38979857,4	K562	blood:
47	chr2:38300805..38303904-chr2:38976182..38979449,4	MCF-7	breast:
48	chr12:7012428..7015040-chr2:38976959..38979555,2	K562	blood:
49	chr2:38975156..38979928-chr2:39002986..39007194,11	MCF-7	breast:
50	chr2:38978003..38978950-chr5:172197624..172198474,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
SRSF7	TF binding region
SRSF7	CpG island
ENSG00000143891	Chromatin interaction
ENSG00000168993	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000115944	Chromatin interaction
ENSG00000165416	Chromatin interaction
ENSG00000227238	Chromatin interaction
ENSG00000198858	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000235586	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000138061	Chromatin interaction
ENSG00000119787	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000232114	Chromatin interaction
ENSG00000151876	Chromatin interaction
ENSG00000188483	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000231367	Chromatin interaction
ENSG00000188010	Chromatin interaction
ENSG00000003509	Chromatin interaction
ENSG00000014824	Chromatin interaction
ENSG00000164404	Chromatin interaction
ENSG00000160746	Chromatin interaction
ENSG00000092853	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000125812	Chromatin interaction
ENSG00000152102	Chromatin interaction
ENSG00000271443	Chromatin interaction
ENSG00000143889	Chromatin interaction
ENSG00000236859	Chromatin interaction
ENSG00000143977	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000120129	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000126883	Chromatin interaction
ENSG00000164405	Chromatin interaction
ENSG00000239264	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000163214	Chromatin interaction
ENSG00000189067	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000115816	Chromatin interaction
ENSG00000118515	Chromatin interaction
ENSG00000010626	Chromatin interaction
ENSG00000054277	Chromatin interaction
ENSG00000070444	Chromatin interaction
ENSG00000129691	Chromatin interaction
ENSG00000232973	Chromatin interaction
ENSG00000205111	Chromatin interaction
ENSG00000011198	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000214694	Chromatin interaction
ENSG00000115904	Chromatin interaction
ENSG00000111640	Chromatin interaction
ENSG00000074054	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17023056	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3099964	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3112193	0.81[AFR][1000 genomes]
rs6727533	0.81[AFR][1000 genomes]
rs72897912	0.81[AFR][1000 genomes]
rs72909121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909139	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909158	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 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	chr2:38976200-38979000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:38976600-38978800	Active TSS	Pancreas	Pancrea
3	chr2:38976600-38978800	Active TSS	Stomach Mucosa	stomach
4	chr2:38976600-38979000	Active TSS	Ovary	ovary
5	chr2:38976600-38979200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:38976600-38979200	Active TSS	Psoas Muscle	Psoas
7	chr2:38976600-38979200	Active TSS	Right Ventricle	heart
8	chr2:38976600-38979400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:38976800-38978800	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:38976800-38978800	Active TSS	Fetal Muscle Trunk	muscle
11	chr2:38976800-38978800	Active TSS	Left Ventricle	heart
12	chr2:38976800-38978800	Active TSS	Lung	lung
13	chr2:38976800-38978800	Active TSS	HSMMtube	muscle
14	chr2:38976800-38979000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:38976800-38979000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:38976800-38979000	Active TSS	Aorta	Aorta
17	chr2:38976800-38979000	Active TSS	Fetal Heart	heart
18	chr2:38976800-38979000	Active TSS	Fetal Intestine Large	intestine
19	chr2:38976800-38979000	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr2:38976800-38979000	Active TSS	Small Intestine	intestine
21	chr2:38976800-38979200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:38976800-38979200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr2:38976800-38979200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:38976800-38979200	Active TSS	Colon Smooth Muscle	Colon
25	chr2:38976800-38979600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr2:38977000-38978800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:38977000-38978800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:38977000-38978800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr2:38977000-38978800	Active TSS	Colonic Mucosa	Colon
30	chr2:38977000-38978800	Active TSS	Duodenum Mucosa	Duodenum
31	chr2:38977000-38978800	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:38977000-38978800	Active TSS	Esophagus	oesophagus
33	chr2:38977000-38978800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr2:38977000-38978800	Active TSS	HUVEC	blood vessel
35	chr2:38977000-38979000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:38977000-38979000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:38977000-38979000	Active TSS	Fetal Intestine Small	intestine
38	chr2:38977000-38979400	Active TSS	Fetal Kidney	kidney
39	chr2:38977200-38978800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:38977200-38978800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:38977200-38978800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:38977200-38978800	Active TSS	Brain Angular Gyrus	brain
43	chr2:38977200-38978800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr2:38977200-38978800	Active TSS	Placenta	Placenta
45	chr2:38977200-38978800	Active TSS	Stomach Smooth Muscle	stomach
46	chr2:38977200-38978800	Active TSS	NHDF-Ad	bronchial
47	chr2:38977200-38979000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:38977200-38979000	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr2:38977200-38979000	Active TSS	Brain Substantia Nigra	brain
50	chr2:38977200-38979000	Active TSS	Fetal Lung	lung

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