Variant report

Variant	rs73735621
Chromosome Location	chr7:139475940-139475941
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	MTA3	chr7:139475496-139477044	GM12878	blood:	n/a	n/a
2	CUX1	chr7:139475528-139476037	K562	blood:	n/a	n/a
3	POLR2A	chr7:139475686-139476133	GM12891	blood:	n/a	n/a
4	NFIC	chr7:139475493-139475978	GM12878	blood:	n/a	n/a
5	RAD21	chr7:139475492-139476070	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr7:139475574-139475984	A549	lung:	n/a	chr7:139475859-139475872 chr7:139475771-139475789
7	ELK1	chr7:139475741-139475979	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr7:139475649-139475972	ECC-1	luminal epithelium:	n/a	chr7:139475859-139475872 chr7:139475771-139475789
9	TBL1XR1	chr7:139475533-139476607	GM12878	blood:	n/a	n/a
10	RCOR1	chr7:139475720-139475953	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr7:139475579-139475969	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr7:139475492-139476044	MCF-7	breast:	n/a	n/a
13	POLR2A	chr7:139475703-139476076	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr7:139475812-139475944	A549	lung:	n/a	n/a
15	CTCF	chr7:139475591-139475993	K562	blood:	n/a	chr7:139475859-139475872 chr7:139475771-139475789
16	NFIC	chr7:139475466-139476873	SK-N-SH	brain:	n/a	n/a
17	SIN3A	chr7:139475631-139476027	GM12878	blood:	n/a	n/a
18	SMC3	chr7:139475522-139476890	Hela-S3	cervix:	n/a	n/a
19	SMC3	chr7:139473945-139477093	SK-N-SH	brain:	n/a	n/a
20	ZMIZ1	chr7:139475667-139475977	K562	blood:	n/a	n/a
21	SMC3	chr7:139475593-139475967	K562	blood:	n/a	n/a
22	YY1	chr7:139475650-139475997	GM12891	blood:	n/a	n/a
23	RAD21	chr7:139475152-139477208	SK-N-SH	brain:	n/a	chr7:139475362-139475371
24	RAD21	chr7:139475603-139476058	A549	lung:	n/a	n/a
25	SMC3	chr7:139475561-139476103	GM12878	blood:	n/a	n/a
26	RAD21	chr7:139475546-139476082	A549	lung:	n/a	n/a
27	POLR2A	chr7:139475638-139476840	PBDE	blood:	n/a	n/a
28	POLR2A	chr7:139475648-139476092	GM12892	blood:	n/a	n/a
29	MYC	chr7:139475662-139476315	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr7:139475692-139476044	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:139475492-139477054	GM12892	blood:	n/a	n/a
32	ARID3A	chr7:139475585-139475961	K562	blood:	n/a	n/a
33	PML	chr7:139475507-139476802	GM12878	blood:	n/a	n/a
34	CTCF	chr7:139475485-139476068	MCF-7	breast:	n/a	chr7:139475859-139475872 chr7:139475771-139475789 chr7:139475499-139475507
35	MYC	chr7:139475658-139476047	NB4	blood:	n/a	n/a
36	RAD21	chr7:139475296-139476990	IMR90	lung:	n/a	chr7:139475362-139475371
37	SMC3	chr7:139475474-139475963	HepG2	liver:	n/a	n/a
38	MAZ	chr7:139475606-139475952	K562	blood:	n/a	n/a
39	POLR2A	chr7:139475725-139475981	Hela-S3	cervix:	n/a	n/a
40	RAD21	chr7:139475550-139476004	GM12878	blood:	n/a	n/a
41	ZNF384	chr7:139475652-139476162	GM12878	blood:	n/a	n/a
42	MAX	chr7:139475545-139476813	NB4	blood:	n/a	n/a
43	USF2	chr7:139475707-139475983	Hela-S3	cervix:	n/a	n/a
44	MXI1	chr7:139475619-139476018	HepG2	liver:	n/a	n/a
45	MXI1	chr7:139475623-139476804	GM12878	blood:	n/a	n/a
46	GTF2F1	chr7:139475836-139475941	K562	blood:	n/a	n/a
47	MAZ	chr7:139475712-139476804	GM12878	blood:	n/a	n/a
48	RELA	chr7:139475623-139477005	GM19099	blood:	n/a	chr7:139476022-139476031 chr7:139476022-139476031
49	ZNF143	chr7:139475612-139475974	GM12878	blood:	n/a	n/a
50	STAT5A	chr7:139475595-139476194	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:139474504..139476170-chr7:139702174..139703721,2	K562	blood:
2	chr7:139475307..139476323-chr7:139701274..139702359,4	MCF-7	breast:
3	chr7:139474297..139476701-chr7:139704235..139706049,2	K562	blood:
4	chr7:139475640..139476258-chr7:139700454..139701227,2	MCF-7	breast:
5	chr7:139475446..139476273-chr7:139701791..139702721,7	K562	blood:
6	chr7:139452624..139453717-chr7:139475690..139476509,3	MCF-7	breast:
7	chr7:139330790..139331419-chr7:139475535..139476578,3	MCF-7	breast:
8	chr7:139475354..139476270-chr7:139703680..139704339,2	MCF-7	breast:

Variant related genes	Relation type
TBXAS1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10228448	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10228830	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10257315	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10257659	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10261622	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10261757	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10274540	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs60526073	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6947799	0.93[AFR][1000 genomes]
rs6963553	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6964028	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6972460	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7455629	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7810177	1.00[AFR][1000 genomes];0.82[AMR][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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139446600-139476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:139446800-139476400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:139469200-139476200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:139469200-139476400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:139474400-139476200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:139474800-139476000	Flanking Active TSS	Osteobl	bone
7	chr7:139474800-139476400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:139474800-139476400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr7:139474800-139478400	Active TSS	Right Ventricle	heart
10	chr7:139475000-139476000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr7:139475000-139476200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr7:139475200-139476000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr7:139475200-139477000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr7:139475400-139476000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr7:139475400-139476000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr7:139475400-139476000	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr7:139475400-139476000	Flanking Active TSS	Hela-S3	cervix
18	chr7:139475400-139476400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:139475400-139476400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:139475400-139476400	Flanking Active TSS	HUVEC	blood vessel
21	chr7:139475400-139477000	Active TSS	Stomach Mucosa	stomach
22	chr7:139475400-139477000	Flanking Active TSS	Dnd41	blood
23	chr7:139475400-139478200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:139475400-139478200	Active TSS	Thymus	Thymus
25	chr7:139475400-139478400	Active TSS	Stomach Smooth Muscle	stomach
26	chr7:139475400-139478600	Active TSS	Fetal Brain Female	brain
27	chr7:139475400-139478600	Active TSS	Lung	lung
28	chr7:139475400-139478800	Active TSS	Aorta	Aorta
29	chr7:139475400-139478800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:139475600-139476000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:139475600-139476000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:139475600-139476000	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr7:139475600-139476000	Flanking Active TSS	Fetal Thymus	thymus
34	chr7:139475600-139476200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:139475600-139476200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr7:139475600-139476200	Weak transcription	Spleen	Spleen
37	chr7:139475600-139476400	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr7:139475600-139476400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr7:139475600-139476800	Flanking Active TSS	K562	blood
40	chr7:139475600-139477000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr7:139475600-139477200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr7:139475600-139477200	Active TSS	Brain Angular Gyrus	brain
43	chr7:139475600-139477200	Active TSS	Fetal Kidney	kidney
44	chr7:139475600-139477200	Active TSS	Fetal Lung	lung
45	chr7:139475600-139478000	Active TSS	Colonic Mucosa	Colon
46	chr7:139475600-139478000	Active TSS	Pancreas	Pancrea
47	chr7:139475600-139478200	Active TSS	Gastric	stomach
48	chr7:139475600-139478200	Active TSS	Right Atrium	heart
49	chr7:139475600-139478400	Active TSS	Brain Hippocampus Middle	brain
50	chr7:139475600-139478600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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