Variant report

Variant	rs73693875
Chromosome Location	chr7:38217586-38217587
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:372)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr7:38217544-38218438	HepG2	liver:	n/a	n/a
2	MAZ	chr7:38217048-38219706	IMR90	lung:	n/a	chr7:38218254-38218263
3	NFIC	chr7:38217082-38218203	GM12878	blood:	n/a	n/a
4	ATF1	chr7:38217472-38218843	K562	blood:	n/a	chr7:38217842-38217856
5	REST	chr7:38217106-38218923	H1-neurons	neurons:	n/a	n/a
6	E2F6	chr7:38217304-38218044	H1-hESC	embryonic stem cell:	n/a	chr7:38217846-38217855 chr7:38217613-38217620 chr7:38217613-38217620 chr7:38217844-38217853 chr7:38217701-38217712 chr7:38217657-38217668 chr7:38217613-38217620
7	ELF1	chr7:38217384-38218293	K562	blood:	n/a	n/a
8	TAF1	chr7:38217367-38218042	SK-N-SH	brain:	n/a	n/a
9	PBX3	chr7:38217448-38217985	A549	lung:	n/a	chr7:38217733-38217753
10	MAX	chr7:38217348-38218252	K562	blood:	n/a	n/a
11	CREB1	chr7:38217420-38218350	K562	blood:	n/a	chr7:38217843-38217856
12	TBP	chr7:38217294-38218192	H1-hESC	embryonic stem cell:	n/a	n/a
13	CBX3	chr7:38217439-38217903	K562	blood:	n/a	n/a
14	ELF1	chr7:38217350-38218274	HepG2	liver:	n/a	n/a
15	MYC	chr7:38217464-38218350	MCF10A-Er-Src	breast:	n/a	chr7:38218254-38218263
16	USF1	chr7:38217435-38218349	SK-N-SH	brain:	n/a	n/a
17	STAT3	chr7:38217539-38218440	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr7:38217377-38218388	GM12891	blood:	n/a	n/a
19	EBF1	chr7:38217297-38217711	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:38217251-38218311	GM12878	blood:	n/a	n/a
21	MAX	chr7:38217334-38218209	A549	lung:	n/a	n/a
22	POLR2A	chr7:38217331-38218330	Raji	blood:	n/a	n/a
23	POLR2A	chr7:38217290-38218431	K562	blood:	n/a	n/a
24	RCOR1	chr7:38217408-38218354	HepG2	liver:	n/a	n/a
25	EP300	chr7:38217511-38218323	HepG2	liver:	n/a	chr7:38217869-38217885
26	CHD2	chr7:38217444-38218405	HepG2	liver:	n/a	n/a
27	RUNX3	chr7:38217266-38218690	GM12878	blood:	n/a	n/a
28	NFYA	chr7:38217255-38217991	K562	blood:	n/a	n/a
29	SMC3	chr7:38217471-38218182	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr7:38217337-38218354	A549	lung:	n/a	n/a
31	SIN3A	chr7:38217553-38218462	H1-hESC	embryonic stem cell:	n/a	n/a
32	TCF7L2	chr7:38217276-38218192	PANC-1	pancreas:	n/a	n/a
33	SIN3AK20	chr7:38217374-38217664	PANC-1	pancreas:	n/a	n/a
34	STAT3	chr7:38217437-38217792	MCF10A-Er-Src	breast:	n/a	n/a
35	YY1	chr7:38217374-38218695	GM12878	blood:	n/a	n/a
36	CREB1	chr7:38217445-38218307	K562	blood:	n/a	chr7:38217843-38217856
37	ELF1	chr7:38217407-38218412	GM12878	blood:	n/a	n/a
38	IRF1	chr7:38217413-38218297	K562	blood:	n/a	n/a
39	KAP1	chr7:38217484-38218436	U2OS	brain:	n/a	n/a
40	TBL1XR1	chr7:38217263-38218148	K562	blood:	n/a	n/a
41	REST	chr7:38217344-38218391	HL-60	blood:	n/a	n/a
42	POLR2A	chr7:38217376-38218178	HCT-116	colon:	n/a	n/a
43	SP1	chr7:38217268-38218220	A549	lung:	n/a	chr7:38218172-38218186 chr7:38218175-38218187
44	MTA3	chr7:38217085-38218860	GM12878	blood:	n/a	n/a
45	MAZ	chr7:38217383-38218387	HepG2	liver:	n/a	chr7:38218254-38218263
46	TCF7L2	chr7:38217357-38218263	HCT-116	colon:	n/a	n/a
47	MYBL2	chr7:38217343-38218183	HepG2	liver:	n/a	n/a
48	MAX	chr7:38217167-38218458	A549	lung:	n/a	chr7:38218254-38218263
49	POLR2A	chr7:38217136-38218428	K562	blood:	n/a	n/a
50	SPI1	chr7:38217207-38218160	HL-60	blood:	n/a	chr7:38217574-38217581 chr7:38217694-38217707 chr7:38217573-38217582

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:38217582-38217632	HRCEpiC	kidney:	n/a
2	chr7:38217582-38217632	AoSMC	blood vessel:	n/a
3	chr7:38217582-38217632	LNCaP	prostate:	n/a
4	chr7:38217582-38217632	HCM	heart:	n/a
5	chr7:38217582-38217632	AG10803	skin:	n/a
6	chr7:38217582-38217632	MCF-7	breast:	n/a
7	chr7:38217582-38217632	HEEpiC	esophagus:	n/a
8	chr7:38217582-38217632	GM12892	blood:	n/a
9	chr7:38217582-38217632	HCPEpiC	choroid plexus:	n/a
10	chr7:38217582-38217632	ovcar-3	ovarian:	n/a
11	chr7:38217582-38217632	T-47D	breast:	n/a
12	chr7:38217582-38217632	HNPCEpiC	eye:	n/a
13	chr7:38217582-38217632	BE2_C	brain:	n/a
14	chr7:38217582-38217632	BJ	skin:	n/a
15	chr7:38217582-38217632	AG04450	lung:	fetal
16	chr7:38217582-38217632	RPTEC	kidney:	n/a
17	chr7:38217582-38217632	GM06990	blood:	n/a
18	chr7:38217582-38217632	SK-N-SH_RA	brain:	n/a
19	chr7:38217582-38217632	HCT-116	colon:	n/a
20	chr7:38217582-38217632	SKMC	muscle:	n/a
21	chr7:38217582-38217632	ProgFib	skin:	n/a
22	chr7:38217582-38217632	HRPEpiC	eye:	n/a
23	chr7:38217582-38217632	GM12878	blood:	n/a
24	chr7:38217582-38217632	Jurkat	blood:	n/a
25	chr7:38217582-38217632	U87	brain:	n/a
26	chr7:38217582-38217632	H1-hESC	embryonic stem cell:	embryo
27	chr7:38217582-38217632	IMR90	lung:	fetal
28	chr7:38217582-38217632	AG09319	gingival:	n/a
29	chr7:38217582-38217632	SAEC	small airway:	n/a
30	chr7:38217582-38217632	K562	blood:	n/a
31	chr7:38217582-38217632	Caco-2	colon:	n/a
32	chr7:38217582-38217632	Hela-S3	cervix:	n/a
33	chr7:38217582-38217632	Hepatocyte	liver:	n/a
34	chr7:38217582-38217632	HIPEpiC	eye:	n/a
35	chr7:38217582-38217632	NHBE	bronchial:	n/a
36	chr7:38217582-38217632	AG04449	skin:	fetal
37	chr7:38217582-38217632	HepG2	liver:	n/a
38	chr7:38217582-38217632	NHDF-neo	bronchial:	n/a
39	chr7:38217582-38217632	NB4	blood:	n/a
40	chr7:38217582-38217632	PANC-1	pancreas:	n/a
41	chr7:38217582-38217632	HCF	heart:	n/a
42	chr7:38217582-38217632	HL-60	blood:	n/a
43	chr7:38217582-38217632	PrEC	prostate:	n/a
44	chr7:38217582-38217632	NT2-D1	testis:	n/a
45	chr7:38217582-38217632	HEK293	kidney:	embryo
46	chr7:38217582-38217632	HMEC	breast:	n/a
47	chr7:38217582-38217632	HAEpiC	amniotic membrane:	n/a
48	chr7:38217582-38217632	HRE	kidney:	n/a
49	chr7:38217582-38217632	NH-A	brain:	n/a
50	chr7:38217582-38217632	CMK	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:16840409..16841090-chr7:38217565..38218418,2	NB4	blood:
2	chr12:52450154..52450678-chr7:38217214..38217841,2	Hela-S3	cervix:
3	chr7:38216168..38217800-chr7:38379811..38381919,2	K562	blood:

No data

Variant related genes	Relation type
STARD3NL	TF binding region
STARD3NL	CpG island
ENSG00000226212	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000206652	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12111691	0.84[AMR][1000 genomes]
rs12112821	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55670304	0.84[AMR][1000 genomes]
rs55969247	0.84[AMR][1000 genomes]
rs57190517	0.84[AMR][1000 genomes]
rs59748716	0.84[AMR][1000 genomes]
rs73348615	0.84[AMR][1000 genomes]
rs73348622	0.84[AMR][1000 genomes]
rs73348627	0.84[AMR][1000 genomes]
rs73348628	0.84[AMR][1000 genomes]
rs73348650	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs73348667	0.84[AMR][1000 genomes]
rs73693871	0.97[AFR][1000 genomes];0.84[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	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 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	chr7:38216800-38217800	Flanking Active TSS	Dnd41	blood
2	chr7:38216800-38218600	Active TSS	Fetal Kidney	kidney
3	chr7:38216800-38218800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:38217000-38217600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr7:38217000-38217600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr7:38217000-38217600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:38217000-38218600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:38217000-38218600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:38217000-38218600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:38217000-38218600	Active TSS	Fetal Brain Male	brain
11	chr7:38217000-38218800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:38217000-38218800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:38217000-38218800	Active TSS	Brain Angular Gyrus	brain
14	chr7:38217000-38218800	Active TSS	Fetal Brain Female	brain
15	chr7:38217000-38219200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:38217000-38219400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:38217000-38219400	Active TSS	GM12878-XiMat	blood
18	chr7:38217000-38219600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:38217000-38219800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr7:38217200-38217600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:38217200-38217600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:38217200-38217600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr7:38217200-38217600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr7:38217200-38217600	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr7:38217200-38217600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr7:38217200-38217600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr7:38217200-38217600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr7:38217200-38217600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr7:38217200-38217600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:38217200-38217600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:38217200-38217600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr7:38217200-38217600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:38217200-38217600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr7:38217200-38217600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr7:38217200-38217600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr7:38217200-38217600	Flanking Active TSS	HSMM	muscle
37	chr7:38217200-38217600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr7:38217200-38217600	Flanking Active TSS	NH-A	brain
39	chr7:38217200-38217600	Flanking Active TSS	Osteobl	bone
40	chr7:38217200-38217800	Active TSS	Brain Germinal Matrix	brain
41	chr7:38217200-38218000	Active TSS	Primary B cells from cord blood	blood
42	chr7:38217200-38218000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:38217200-38218200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:38217200-38218200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:38217200-38218400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr7:38217200-38218600	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr7:38217200-38218600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:38217200-38218600	Active TSS	Liver	Liver
49	chr7:38217200-38218600	Active TSS	Brain Anterior Caudate	brain
50	chr7:38217200-38218600	Active TSS	Brain Cingulate Gyrus	brain

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