Variant report

Variant	rs73128691
Chromosome Location	chr7:38217683-38217684
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	YY1	chr7:38217544-38218438	HepG2	liver:	n/a	n/a
2	MAZ	chr7:38217637-38218340	Hela-S3	cervix:	n/a	chr7:38218254-38218263
3	MAZ	chr7:38217048-38219706	IMR90	lung:	n/a	chr7:38218254-38218263
4	NFIC	chr7:38217082-38218203	GM12878	blood:	n/a	n/a
5	ATF1	chr7:38217472-38218843	K562	blood:	n/a	chr7:38217842-38217856
6	REST	chr7:38217106-38218923	H1-neurons	neurons:	n/a	n/a
7	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
8	ELF1	chr7:38217384-38218293	K562	blood:	n/a	n/a
9	TAF1	chr7:38217367-38218042	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr7:38217448-38217985	A549	lung:	n/a	chr7:38217733-38217753
11	MAX	chr7:38217348-38218252	K562	blood:	n/a	n/a
12	CREB1	chr7:38217420-38218350	K562	blood:	n/a	chr7:38217843-38217856
13	TBP	chr7:38217294-38218192	H1-hESC	embryonic stem cell:	n/a	n/a
14	CBX3	chr7:38217439-38217903	K562	blood:	n/a	n/a
15	ELF1	chr7:38217350-38218274	HepG2	liver:	n/a	n/a
16	MYC	chr7:38217464-38218350	MCF10A-Er-Src	breast:	n/a	chr7:38218254-38218263
17	USF1	chr7:38217435-38218349	SK-N-SH	brain:	n/a	n/a
18	STAT3	chr7:38217539-38218440	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr7:38217377-38218388	GM12891	blood:	n/a	n/a
20	EBF1	chr7:38217297-38217711	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:38217251-38218311	GM12878	blood:	n/a	n/a
22	MAX	chr7:38217334-38218209	A549	lung:	n/a	n/a
23	POLR2A	chr7:38217331-38218330	Raji	blood:	n/a	n/a
24	POLR2A	chr7:38217290-38218431	K562	blood:	n/a	n/a
25	ZNF384	chr7:38217601-38218784	K562	blood:	n/a	n/a
26	RCOR1	chr7:38217408-38218354	HepG2	liver:	n/a	n/a
27	EP300	chr7:38217511-38218323	HepG2	liver:	n/a	chr7:38217869-38217885
28	CHD2	chr7:38217444-38218405	HepG2	liver:	n/a	n/a
29	RUNX3	chr7:38217266-38218690	GM12878	blood:	n/a	n/a
30	NFYA	chr7:38217255-38217991	K562	blood:	n/a	n/a
31	SMC3	chr7:38217471-38218182	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr7:38217337-38218354	A549	lung:	n/a	n/a
33	SIN3A	chr7:38217553-38218462	H1-hESC	embryonic stem cell:	n/a	n/a
34	TCF7L2	chr7:38217276-38218192	PANC-1	pancreas:	n/a	n/a
35	STAT3	chr7:38217437-38217792	MCF10A-Er-Src	breast:	n/a	n/a
36	YY1	chr7:38217374-38218695	GM12878	blood:	n/a	n/a
37	CREB1	chr7:38217445-38218307	K562	blood:	n/a	chr7:38217843-38217856
38	ELF1	chr7:38217407-38218412	GM12878	blood:	n/a	n/a
39	IRF1	chr7:38217413-38218297	K562	blood:	n/a	n/a
40	FOS	chr7:38217592-38217954	MCF10A-Er-Src	breast:	n/a	chr7:38217845-38217854
41	KAP1	chr7:38217484-38218436	U2OS	brain:	n/a	n/a
42	TBL1XR1	chr7:38217263-38218148	K562	blood:	n/a	n/a
43	REST	chr7:38217344-38218391	HL-60	blood:	n/a	n/a
44	POLR2A	chr7:38217376-38218178	HCT-116	colon:	n/a	n/a
45	SP1	chr7:38217268-38218220	A549	lung:	n/a	chr7:38218172-38218186 chr7:38218175-38218187
46	MTA3	chr7:38217085-38218860	GM12878	blood:	n/a	n/a
47	MAZ	chr7:38217383-38218387	HepG2	liver:	n/a	chr7:38218254-38218263
48	TCF7L2	chr7:38217357-38218263	HCT-116	colon:	n/a	n/a
49	MYBL2	chr7:38217343-38218183	HepG2	liver:	n/a	n/a
50	MAX	chr7:38217167-38218458	A549	lung:	n/a	chr7:38218254-38218263

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:

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

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1019179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10260257	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10260281	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10265931	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10480165	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11765477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11773415	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12671662	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1524061	0.90[ASN][1000 genomes]
rs17171306	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1860523	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2079850	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2191313	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2240823	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4720272	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4723736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4723737	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59870865	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9490	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9801416	0.95[AMR][1000 genomes];0.84[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73128691	STARD3NL	cis	Thyroid	GTEx

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	chr7:38217000-38218600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:38217000-38218600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr7:38217000-38218600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:38217000-38218600	Active TSS	Fetal Brain Male	brain
8	chr7:38217000-38218800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:38217000-38218800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:38217000-38218800	Active TSS	Brain Angular Gyrus	brain
11	chr7:38217000-38218800	Active TSS	Fetal Brain Female	brain
12	chr7:38217000-38219200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:38217000-38219400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:38217000-38219400	Active TSS	GM12878-XiMat	blood
15	chr7:38217000-38219600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:38217000-38219800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr7:38217200-38217800	Active TSS	Brain Germinal Matrix	brain
18	chr7:38217200-38218000	Active TSS	Primary B cells from cord blood	blood
19	chr7:38217200-38218000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:38217200-38218200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:38217200-38218200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:38217200-38218400	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr7:38217200-38218600	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr7:38217200-38218600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:38217200-38218600	Active TSS	Liver	Liver
26	chr7:38217200-38218600	Active TSS	Brain Anterior Caudate	brain
27	chr7:38217200-38218600	Active TSS	Brain Cingulate Gyrus	brain
28	chr7:38217200-38218600	Active TSS	Brain Hippocampus Middle	brain
29	chr7:38217200-38218600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr7:38217200-38218600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:38217200-38218600	Active TSS	Brain Substantia Nigra	brain
32	chr7:38217200-38218600	Active TSS	Colonic Mucosa	Colon
33	chr7:38217200-38218600	Active TSS	Fetal Intestine Small	intestine
34	chr7:38217200-38218600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr7:38217200-38218600	Active TSS	Thymus	Thymus
36	chr7:38217200-38218600	Bivalent/Poised TSS	HepG2	liver
37	chr7:38217200-38218600	Active TSS	HUVEC	blood vessel
38	chr7:38217200-38218600	Active TSS	NHEK	skin
39	chr7:38217200-38218800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr7:38217200-38218800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr7:38217200-38218800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr7:38217200-38218800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:38217200-38218800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr7:38217200-38218800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:38217200-38218800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:38217200-38218800	Active TSS	Primary T cells fromperipheralblood	blood
47	chr7:38217200-38218800	Active TSS	Fetal Lung	lung
48	chr7:38217200-38218800	Active TSS	Fetal Muscle Trunk	muscle
49	chr7:38217200-38218800	Active TSS	Fetal Stomach	stomach
50	chr7:38217200-38218800	Active TSS	Fetal Thymus	thymus

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