Variant report

Variant	rs73404527
Chromosome Location	chr7:96634855-96634856
allele	C/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	MAX	chr7:96634418-96635114	SK-N-SH	brain:	n/a	chr7:96634981-96634991
2	CREB1	chr7:96634637-96634937	A549	lung:	n/a	chr7:96634808-96634821
3	RAD21	chr7:96634633-96634919	HepG2	liver:	n/a	chr7:96634714-96634727 chr7:96634717-96634731
4	TAF1	chr7:96634604-96634939	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr7:96634451-96635166	PFSK-1	brain:	n/a	n/a
6	NFYB	chr7:96634686-96635042	GM12878	blood:	n/a	chr7:96634826-96634841 chr7:96634826-96634841 chr7:96634826-96634840
7	USF2	chr7:96634846-96635058	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr7:96634537-96635203	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr7:96634473-96635033	H1-hESC	embryonic stem cell:	n/a	chr7:96634981-96634991
10	REST	chr7:96633990-96635799	H1-neurons	neurons:	n/a	chr7:96635204-96635222 chr7:96634677-96634690
11	POLR2A	chr7:96634533-96634961	HepG2	liver:	n/a	n/a
12	MAX	chr7:96634451-96634971	HepG2	liver:	n/a	n/a
13	TBP	chr7:96634561-96635043	HepG2	liver:	n/a	n/a
14	CHD2	chr7:96634580-96634945	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
16	TAF1	chr7:96634512-96635019	HepG2	liver:	n/a	n/a
17	HEY1	chr7:96634423-96635108	HepG2	liver:	n/a	chr7:96634809-96634818 chr7:96634811-96634820
18	TAF1	chr7:96634635-96635028	PFSK-1	brain:	n/a	n/a
19	MAX	chr7:96634441-96635094	SK-N-SH	brain:	n/a	chr7:96634981-96634991
20	E2F4	chr7:96634629-96634891	MCF10A-Er-Src	breast:	n/a	chr7:96634811-96634820 chr7:96634809-96634818
21	POLR2A	chr7:96634514-96635027	ECC-1	luminal epithelium:	n/a	n/a
22	MAZ	chr7:96634593-96635203	HepG2	liver:	n/a	chr7:96634981-96634991
23	TAF1	chr7:96634529-96635003	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr7:96634627-96635041	SK-N-SH	brain:	n/a	n/a
25	MAX	chr7:96634408-96635074	HepG2	liver:	n/a	chr7:96634981-96634991
26	CREB1	chr7:96634508-96635111	ECC-1	luminal epithelium:	n/a	chr7:96634808-96634821
27	CTCF	chr7:96634720-96634870	HMEC	breast:	n/a	n/a
28	POLR2A	chr7:96634323-96637321	HepG2	liver:	n/a	n/a
29	POLR2A	chr7:96634525-96635075	HEK293	kidney:	n/a	n/a
30	POLR2A	chr7:96634380-96635057	ECC-1	luminal epithelium:	n/a	n/a
31	KAP1	chr7:96634407-96634900	HEK293	kidney:	n/a	n/a
32	CREB1	chr7:96634482-96635078	H1-hESC	embryonic stem cell:	n/a	chr7:96634808-96634821
33	REST	chr7:96634492-96634891	HepG2	liver:	n/a	chr7:96634677-96634690
34	CEBPD	chr7:96634587-96635060	HepG2	liver:	n/a	n/a
35	POLR2A	chr7:96634474-96636384	HepG2	liver:	n/a	n/a
36	E2F6	chr7:96634536-96635124	A549	lung:	n/a	chr7:96634811-96634820 chr7:96634809-96634818
37	TCF12	chr7:96634364-96635153	ECC-1	luminal epithelium:	n/a	chr7:96634370-96634377
38	MXI1	chr7:96634734-96634934	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr7:96634423-96636395	HepG2	liver:	n/a	chr7:96634808-96634821
40	TCF12	chr7:96634355-96635061	ECC-1	luminal epithelium:	n/a	chr7:96634370-96634377
41	MAX	chr7:96634508-96635031	H1-hESC	embryonic stem cell:	n/a	chr7:96634981-96634991
42	MAFK	chr7:96634773-96634889	HepG2	liver:	n/a	n/a
43	TAF1	chr7:96634471-96635117	ECC-1	luminal epithelium:	n/a	n/a
44	ZNF263	chr7:96634409-96636733	HEK293-T-REx	kidney:	n/a	n/a
45	CEBPB	chr7:96634678-96634979	HepG2	liver:	n/a	n/a
46	MXI1	chr7:96633643-96636712	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr7:96634557-96635006	HepG2	liver:	n/a	n/a
48	TAF1	chr7:96634199-96635841	H1-neurons	neurons:	n/a	n/a
49	RFX5	chr7:96634501-96635005	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:96634775-96634860	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
DLX6-AS1	TF binding region
DLX6	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17168147	1.00[EUR][1000 genomes]
rs57290194	1.00[EUR][1000 genomes]
rs6963087	1.00[EUR][1000 genomes]
rs73404541	1.00[EUR][1000 genomes]
rs73404545	1.00[EUR][1000 genomes]
rs73404547	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3443017	chr7:96634416-96636664	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96625000-96644000	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr7:96628000-96643200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr7:96633000-96635000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:96633800-96637000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:96634000-96638200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:96634200-96635000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:96634200-96635000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:96634200-96635200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr7:96634200-96635200	Bivalent Enhancer	Lung	lung
10	chr7:96634200-96635800	Bivalent/Poised TSS	HSMM	muscle
11	chr7:96634200-96636000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:96634200-96636000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:96634400-96635000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
16	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
17	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
18	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
19	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
28	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
29	chr7:96634400-96635000	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
31	chr7:96634400-96635000	Flanking Active TSS	Right Atrium	heart
32	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
33	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
34	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	HMEC	breast
35	chr7:96634400-96635000	Flanking Bivalent TSS/Enh	NHEK	skin
36	chr7:96634400-96635200	Enhancers	Pancreas	Pancrea
37	chr7:96634400-96635400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr7:96634400-96635400	Enhancers	Gastric	stomach
39	chr7:96634400-96635400	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr7:96634400-96635400	ZNF genes & repeats	Spleen	Spleen
41	chr7:96634400-96635600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr7:96634400-96635600	Bivalent Enhancer	Fetal Thymus	thymus
43	chr7:96634400-96636000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr7:96634400-96636000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:96634400-96636000	Active TSS	HepG2	liver
46	chr7:96634400-96636400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:96634400-96636600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:96634400-96636600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:96634400-96636800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr7:96634400-96637200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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