Variant report

Variant	rs34743713
Chromosome Location	chr1:94374350-94374351
allele	-/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	chr1:94374336-94374660	HepG2	liver:	n/a	n/a
2	TCF3	chr1:94374340-94374761	GM12878	blood:	n/a	n/a
3	TCF12	chr1:94374180-94375503	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr1:94374261-94374588	T-47D	breast:	n/a	n/a
5	NRF1	chr1:94374333-94374400	HepG2	liver:	n/a	n/a
6	HDAC2	chr1:94374339-94374720	MCF-7	breast:	n/a	n/a
7	MAFK	chr1:94374279-94374358	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr1:94373955-94374560	NB4	blood:	n/a	n/a
9	POLR2A	chr1:94374230-94375393	GM19193	blood:	n/a	n/a
10	POLR2A	chr1:94374259-94375446	GM15510	blood:	n/a	n/a
11	E2F6	chr1:94374281-94375453	K562	blood:	n/a	chr1:94375442-94375451 chr1:94374910-94374917 chr1:94374840-94374850 chr1:94374904-94374914 chr1:94374910-94374917 chr1:94374906-94374918 chr1:94375188-94375197 chr1:94374910-94374917
12	HCFC1	chr1:94373924-94375533	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:94374209-94375467	GM18951	blood:	n/a	n/a
14	UBTF	chr1:94374161-94375618	K562	blood:	n/a	n/a
15	HEY1	chr1:94374206-94374625	K562	blood:	n/a	n/a
16	JUN	chr1:94373742-94375901	K562	blood:	n/a	chr1:94374760-94374769
17	POLR2A	chr1:94374260-94375510	K562	blood:	n/a	n/a
18	TAF1	chr1:94374301-94375426	HepG2	liver:	n/a	n/a
19	ESR1	chr1:94374210-94374543	T-47D	breast:	n/a	n/a
20	UBTF	chr1:94374216-94375395	K562	blood:	n/a	n/a
21	POLR2A	chr1:94374219-94375549	H1-neurons	neurons:	n/a	n/a
22	MYC	chr1:94374343-94374544	MCF-7	breast:	n/a	n/a
23	TFAP2A	chr1:94374036-94375446	Hela-S3	cervix:	n/a	chr1:94374505-94374517 chr1:94375323-94375338 chr1:94374505-94374516 chr1:94374877-94374885 chr1:94375222-94375233 chr1:94375129-94375141 chr1:94374505-94374516 chr1:94375124-94375139 chr1:94374505-94374516 chr1:94374500-94374515
24	RUNX3	chr1:94374103-94374610	GM12878	blood:	n/a	n/a
25	HDAC2	chr1:94374257-94374650	HepG2	liver:	n/a	n/a
26	SMARCB1	chr1:94374173-94375480	Hela-S3	cervix:	n/a	n/a
27	EBF1	chr1:94374191-94374617	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr1:94374171-94375457	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr1:94373937-94375710	PBDE	blood:	n/a	n/a
30	ESR1	chr1:94374258-94374643	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr1:94374177-94375572	K562	blood:	n/a	n/a
32	POLR2A	chr1:94374225-94375437	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr1:94374216-94375435	Gliobla	brain:	n/a	n/a
34	SMC3	chr1:94374238-94374483	Hela-S3	cervix:	n/a	n/a
35	ELK1	chr1:94374340-94374489	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr1:94374266-94374673	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F6	chr1:94374336-94374564	K562	blood:	n/a	n/a
38	ZNF384	chr1:94374235-94374528	K562	blood:	n/a	n/a
39	MAX	chr1:94374237-94374857	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr1:94374236-94375394	Hela-S3	cervix:	n/a	chr1:94375076-94375086
41	MAZ	chr1:94374276-94374632	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr1:94374158-94375420	A549	lung:	n/a	n/a
43	TCF12	chr1:94374274-94374581	GM12878	blood:	n/a	n/a
44	WRNIP1	chr1:94374197-94374512	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:94374311-94375558	NB4	blood:	n/a	n/a
46	TFAP2C	chr1:94374140-94375505	Hela-S3	cervix:	n/a	chr1:94374541-94374556
47	TAF1	chr1:94374222-94375561	H1-hESC	embryonic stem cell:	n/a	n/a
48	TAF1	chr1:94374151-94375487	ECC-1	luminal epithelium:	n/a	n/a
49	ESR1	chr1:94374268-94374562	T-47D	breast:	n/a	n/a
50	MAZ	chr1:94374145-94375654	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:94337226..94339966-chr1:94373816..94376815,2	K562	blood:
2	chr1:94372270..94376088-chr1:94480112..94484516,4	K562	blood:
3	chr1:94312303..94314752-chr1:94373572..94376301,2	MCF-7	breast:
4	chr1:94344173..94346291-chr1:94372636..94375124,3	K562	blood:
5	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
6	chr1:94344690..94346304-chr1:94373768..94376372,3	MCF-7	breast:
7	chr1:93811453..93814121-chr1:94372637..94375148,3	K562	blood:
8	chr1:93811453..93813762-chr1:94372603..94376116,3	K562	blood:
9	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNTTIP2-2	chr1:94374221-94374480	NONHSAT004556

Variant related genes	Relation type
GCLM	TF binding region
ENSG00000117505	Chromatin interaction
ENSG00000198691	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000067334	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv523355	chr1:94351328-94385591	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3404764	chr1:94372564-94377162	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3426478	chr1:94373589-94376737	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:94369600-94375800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:94370800-94375200	Active TSS	HMEC	breast
3	chr1:94371200-94375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:94371600-94374400	Flanking Active TSS	Liver	Liver
5	chr1:94372400-94374400	Flanking Active TSS	Dnd41	blood
6	chr1:94372400-94375800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:94372400-94375800	Active TSS	NHLF	lung
8	chr1:94372600-94374400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:94372800-94376000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:94373000-94374400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:94373000-94374400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:94373000-94374400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr1:94373200-94374400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:94373200-94375600	Active TSS	Brain Angular Gyrus	brain
15	chr1:94373200-94375800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:94373400-94374400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:94373400-94374400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:94373400-94374400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr1:94373400-94374400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr1:94373400-94374600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr1:94373400-94374600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:94373400-94375800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:94373400-94375800	Active TSS	HSMMtube	muscle
24	chr1:94373600-94374400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:94373600-94374400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:94373600-94375400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr1:94373600-94375400	Active TSS	K562	blood
28	chr1:94373600-94375600	Active TSS	Psoas Muscle	Psoas
29	chr1:94373600-94375600	Active TSS	A549	lung
30	chr1:94373600-94375600	Active TSS	HepG2	liver
31	chr1:94373600-94375800	Active TSS	NHDF-Ad	bronchial
32	chr1:94373800-94374400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:94373800-94374400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:94373800-94374400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr1:94373800-94374400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:94373800-94374400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:94373800-94374400	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr1:94373800-94374400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr1:94373800-94374400	Flanking Active TSS	Fetal Brain Male	brain
40	chr1:94373800-94374600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr1:94373800-94374600	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr1:94373800-94375400	Active TSS	Placenta	Placenta
43	chr1:94373800-94375600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:94373800-94375600	Active TSS	Right Atrium	heart
45	chr1:94373800-94375600	Active TSS	Thymus	Thymus
46	chr1:94373800-94375600	Active TSS	HSMM	muscle
47	chr1:94373800-94375800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr1:94373800-94375800	Active TSS	Colonic Mucosa	Colon
49	chr1:94373800-94375800	Active TSS	HUVEC	blood vessel
50	chr1:94373800-94375800	Active TSS	NH-A	brain

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