Variant report

Variant	rs34050735
Chromosome Location	chr7:97501160-97501161
allele	G/T
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	POLR2A	chr7:97500925-97502049	K562	blood:	n/a	n/a
2	POLR2A	chr7:97500930-97502205	PANC-1	pancreas:	n/a	n/a
3	MXI1	chr7:97500784-97501973	Hela-S3	cervix:	n/a	n/a
4	SIN3AK20	chr7:97501042-97502094	SK-N-SH	brain:	n/a	n/a
5	PAX5	chr7:97501085-97501288	GM12878	blood:	n/a	n/a
6	HCFC1	chr7:97500916-97502198	Hela-S3	cervix:	n/a	n/a
7	EP300	chr7:97501101-97502147	ECC-1	luminal epithelium:	n/a	chr7:97501620-97501636 chr7:97501808-97501824
8	MAX	chr7:97500869-97502084	K562	blood:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
9	MAX	chr7:97500975-97502012	HepG2	liver:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
10	SIN3AK20	chr7:97500986-97501980	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr7:97501022-97502055	ECC-1	luminal epithelium:	n/a	n/a
12	ATF2	chr7:97501053-97501801	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr7:97500970-97502097	A549	lung:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
14	RCOR1	chr7:97501105-97501221	Hela-S3	cervix:	n/a	n/a
15	ETS1	chr7:97501120-97501951	K562	blood:	n/a	chr7:97501864-97501875
16	SIN3AK20	chr7:97500906-97501889	K562	blood:	n/a	n/a
17	POLR2A	chr7:97500994-97502038	H1-hESC	embryonic stem cell:	n/a	n/a
18	HEY1	chr7:97501053-97502053	K562	blood:	n/a	n/a
19	MAX	chr7:97500707-97501996	K562	blood:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
20	CCNT2	chr7:97500981-97501998	K562	blood:	n/a	chr7:97501816-97501825
21	POLR2A	chr7:97501004-97502131	K562	blood:	n/a	n/a
22	REST	chr7:97500756-97502281	H1-neurons	neurons:	n/a	chr7:97501410-97501428 chr7:97501591-97501604
23	SIN3AK20	chr7:97500988-97502300	MCF-7	breast:	n/a	n/a
24	JUND	chr7:97501074-97502099	K562	blood:	n/a	n/a
25	EP300	chr7:97500840-97502132	K562	blood:	n/a	chr7:97501620-97501636 chr7:97501808-97501824
26	POLR2A	chr7:97501108-97501963	GM10847	blood:	n/a	n/a
27	GABPA	chr7:97500940-97502158	MCF-7	breast:	n/a	n/a
28	MAX	chr7:97500993-97502050	ECC-1	luminal epithelium:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
29	MAZ	chr7:97500969-97502118	K562	blood:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
30	MAX	chr7:97500931-97502105	H1-hESC	embryonic stem cell:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
31	MAX	chr7:97500966-97502106	MCF-7	breast:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
32	MYC	chr7:97501136-97502090	MCF10A-Er-Src	breast:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
33	RCOR1	chr7:97500979-97502215	K562	blood:	n/a	n/a
34	UBTF	chr7:97500830-97502093	K562	blood:	n/a	n/a
35	BHLHE40	chr7:97501010-97502256	K562	blood:	n/a	chr7:97501392-97501408
36	ZEB1	chr7:97500951-97502046	HepG2	liver:	n/a	chr7:97501461-97501470 chr7:97501658-97501665 chr7:97501145-97501152 chr7:97501655-97501668
37	ELF1	chr7:97500998-97502055	MCF-7	breast:	n/a	n/a
38	MAX	chr7:97501024-97501949	GM12878	blood:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
39	BRCA1	chr7:97501125-97501542	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:97500723-97502174	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr7:97500872-97502163	HCT-116	colon:	n/a	n/a
42	MAX	chr7:97500987-97502153	HCT-116	colon:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
43	POLR2A	chr7:97501000-97502280	PBDE	blood:	n/a	n/a
44	MYC	chr7:97501119-97502017	H1-hESC	embryonic stem cell:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
45	MAZ	chr7:97501070-97502083	GM12878	blood:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
46	RUNX3	chr7:97501090-97502008	GM12878	blood:	n/a	chr7:97501501-97501518
47	IRF1	chr7:97501088-97502119	K562	blood:	n/a	chr7:97501815-97501829 chr7:97501778-97501785 chr7:97501165-97501182 chr7:97501486-97501500
48	POLR2A	chr7:97501027-97502051	GM19193	blood:	n/a	n/a
49	MYC	chr7:97501088-97502038	K562	blood:	n/a	chr7:97501150-97501160 chr7:97501489-97501499
50	TBP	chr7:97500997-97502100	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97499747..97502097-chr7:97599134..97602634,6	MCF-7	breast:
2	chr7:97499263..97502446-chr7:97599755..97603082,5	K562	blood:
3	chr7:97498933..97501538-chr7:115850035..115852126,2	K562	blood:
4	chr7:97499971..97501829-chr7:97601279..97602819,2	MCF-7	breast:
5	chr7:97496316..97498581-chr7:97499278..97501918,3	MCF-7	breast:
6	chr7:97499263..97501796-chr7:97600194..97603082,4	K562	blood:

Variant related genes	Relation type
ASNS	TF binding region
ENSG00000243554	Chromatin interaction
ENSG00000070669	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11773753	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239311	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302088	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34794332	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41278830	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779490	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811643	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv981552	chr7:97500692-97502806	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97500000-97502200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:97500000-97502400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:97500200-97502000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:97500200-97502000	Active TSS	NHEK	skin
5	chr7:97500200-97502200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:97500200-97502200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:97500400-97501200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:97500400-97501400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:97500400-97502000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:97500400-97502000	Active TSS	Brain Angular Gyrus	brain
11	chr7:97500400-97502200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:97500400-97502200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:97500400-97502200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:97500400-97502200	Active TSS	HSMMtube	muscle
15	chr7:97500400-97502400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr7:97500400-97502400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr7:97500400-97502400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:97500600-97501200	Active TSS	NH-A	brain
19	chr7:97500600-97501400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:97500600-97501800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:97500600-97502000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:97500600-97502000	Active TSS	Brain Cingulate Gyrus	brain
23	chr7:97500600-97502000	Active TSS	Stomach Smooth Muscle	stomach
24	chr7:97500600-97502000	Active TSS	A549	lung
25	chr7:97500600-97502000	Active TSS	Hela-S3	cervix
26	chr7:97500600-97502000	Active TSS	HSMM	muscle
27	chr7:97500600-97502200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:97500600-97502200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:97500600-97502200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:97500600-97502200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:97500600-97502200	Active TSS	NHLF	lung
32	chr7:97500600-97502400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr7:97500600-97502400	Active TSS	Colon Smooth Muscle	Colon
34	chr7:97500800-97501200	Enhancers	Primary hematopoietic stem cells	blood
35	chr7:97500800-97501200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:97500800-97501200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:97500800-97501200	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr7:97500800-97501200	Flanking Active TSS	Thymus	Thymus
39	chr7:97500800-97501200	Flanking Active TSS	NHDF-Ad	bronchial
40	chr7:97500800-97501200	Flanking Active TSS	Osteobl	bone
41	chr7:97500800-97501400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr7:97500800-97501400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:97500800-97501400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr7:97500800-97501600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr7:97500800-97501600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr7:97500800-97501600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr7:97500800-97501800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:97500800-97501800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:97500800-97501800	Active TSS	HepG2	liver
50	chr7:97500800-97502000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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