Variant report

Variant	rs6951996
Chromosome Location	chr7:96646437-96646438
allele	A/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	TCF7L2	chr7:96645431-96646653	HEK293	kidney:	n/a	chr7:96646329-96646345 chr7:96646333-96646342 chr7:96646329-96646345 chr7:96646330-96646344 chr7:96646331-96646341
2	RFX5	chr7:96645866-96646641	HepG2	liver:	n/a	n/a
3	MAX	chr7:96645445-96647135	HepG2	liver:	n/a	chr7:96645880-96645890
4	TAF1	chr7:96646077-96646682	HepG2	liver:	n/a	n/a
5	TCF12	chr7:96646344-96646541	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPD	chr7:96645743-96646437	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:96645961-96646670	Gliobla	brain:	n/a	n/a
8	ARID3A	chr7:96646138-96646500	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr7:96645671-96646986	HepG2	liver:	n/a	n/a
11	MAX	chr7:96645327-96647094	HepG2	liver:	n/a	chr7:96645880-96645890
12	GATA2	chr7:96645388-96646979	SH-SY5Y	brain:	n/a	n/a
13	POLR2A	chr7:96645545-96646722	HepG2	liver:	n/a	n/a
14	MXI1	chr7:96645562-96646644	HepG2	liver:	n/a	n/a
15	CHD2	chr7:96646134-96646656	HepG2	liver:	n/a	n/a
16	BACH1	chr7:96646107-96646657	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr7:96645793-96646452	HepG2	liver:	n/a	chr7:96645969-96645979 chr7:96645967-96645979
18	CTBP2	chr7:96645669-96647906	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF263	chr7:96644497-96646964	HEK293-T-REx	kidney:	n/a	chr7:96644758-96644767 chr7:96644756-96644777 chr7:96646239-96646248
20	HEY1	chr7:96645596-96646673	HepG2	liver:	n/a	n/a
21	TBP	chr7:96645745-96646626	HepG2	liver:	n/a	n/a
22	HDAC2	chr7:96645483-96646632	HepG2	liver:	n/a	n/a
23	CREB1	chr7:96645485-96646794	HepG2	liver:	n/a	n/a
24	SUZ12	chr7:96645469-96648990	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr7:96645097-96647724	H1-neurons	neurons:	n/a	n/a
26	TCF7L2	chr7:96645956-96646746	PANC-1	pancreas:	n/a	chr7:96646329-96646345 chr7:96646333-96646342 chr7:96646329-96646345 chr7:96646330-96646344 chr7:96646331-96646341
27	TAF1	chr7:96645667-96646737	HepG2	liver:	n/a	n/a
28	POLR2A	chr7:96645329-96646890	HepG2	liver:	n/a	n/a
29	MBD4	chr7:96645963-96646490	HepG2	liver:	n/a	n/a
30	MYC	chr7:96646243-96646622	HepG2	liver:	n/a	n/a
31	HEY1	chr7:96645489-96646760	HepG2	liver:	n/a	n/a
32	MAZ	chr7:96645437-96646638	HepG2	liver:	n/a	chr7:96645880-96645890
33	RCOR1	chr7:96645811-96646838	HepG2	liver:	n/a	n/a
34	POLR2A	chr7:96645635-96646506	HEK293	kidney:	n/a	n/a
35	TEAD4	chr7:96645967-96646694	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:96646077-96646563	HepG2	liver:	n/a	n/a
37	TAF1	chr7:96644886-96646956	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr7:96628026-96649797	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr7:96645597-96647168	HepG2	liver:	n/a	n/a
40	REST	chr7:96624507-96656402	H1-neurons	neurons:	n/a	chr7:96626900-96626913 chr7:96628274-96628287 chr7:96653242-96653252 chr7:96638441-96638449 chr7:96644780-96644790 chr7:96627625-96627635 chr7:96628223-96628236 chr7:96655951-96655958 chr7:96625513-96625526 chr7:96635204-96635222 chr7:96634677-96634690 chr7:96628302-96628315 chr7:96652071-96652084 chr7:96650634-96650647 chr7:96628298-96628318 chr7:96628298-96628318
41	POLR2A	chr7:96645691-96646659	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:96645690-96646601	HepG2	liver:	n/a	n/a
43	MAX	chr7:96646161-96646609	HepG2	liver:	n/a	n/a
44	ZNF143	chr7:96645730-96646547	H1-hESC	embryonic stem cell:	n/a	chr7:96645829-96645839
45	HDAC2	chr7:96645484-96646659	HepG2	liver:	n/a	n/a
46	TAF1	chr7:96645269-96647100	H1-neurons	neurons:	n/a	n/a
47	SUZ12	chr7:96645885-96648969	NT2-D1	testis:	n/a	n/a
48	POLR2A	chr7:96646188-96646597	HepG2	liver:	n/a	n/a
49	SP1	chr7:96645849-96646551	H1-hESC	embryonic stem cell:	n/a	chr7:96646029-96646042 chr7:96646407-96646416 chr7:96646070-96646084
50	EP300	chr7:96646129-96646681	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
DLX6-AS1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1207729	0.84[AFR][1000 genomes]
rs55667160	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957006	0.81[ASN][1000 genomes]
rs9769385	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs982346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96643200-96647000	Active TSS	Brain Germinal Matrix	brain
2	chr7:96644400-96646800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:96644600-96648200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:96645200-96647800	Flanking Active TSS	Osteobl	bone
5	chr7:96645200-96651600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:96645400-96646600	Active TSS	HepG2	liver
7	chr7:96645400-96648400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr7:96645600-96646600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
9	chr7:96645600-96646600	Bivalent Enhancer	Liver	Liver
10	chr7:96645600-96646600	Flanking Bivalent TSS/Enh	Placenta	Placenta
11	chr7:96645600-96647000	Bivalent Enhancer	Lung	lung
12	chr7:96645600-96647400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
13	chr7:96645600-96647400	Bivalent Enhancer	Brain Substantia Nigra	brain
14	chr7:96645600-96647800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:96645600-96647800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr7:96645600-96647800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr7:96645600-96647800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr7:96645600-96648200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr7:96645800-96646600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:96645800-96646600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr7:96645800-96646600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:96645800-96646600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:96645800-96646600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:96645800-96646600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr7:96645800-96646600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:96645800-96646600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:96645800-96646600	Enhancers	Ovary	ovary
28	chr7:96645800-96646800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
29	chr7:96645800-96647000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:96645800-96647000	Enhancers	Pancreas	Pancrea
31	chr7:96645800-96647400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:96645800-96648200	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr7:96646000-96646600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:96646000-96646600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:96646000-96646600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:96646000-96646600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr7:96646000-96646600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr7:96646000-96646600	Enhancers	Gastric	stomach
39	chr7:96646000-96646800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:96646000-96646800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
41	chr7:96646000-96647000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
42	chr7:96646000-96647200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr7:96646200-96646600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr7:96646200-96646600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:96646200-96646600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:96646200-96646600	Flanking Active TSS	Right Atrium	heart
47	chr7:96646200-96646800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
48	chr7:96646200-96646800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr7:96646200-96647800	Bivalent Enhancer	Psoas Muscle	Psoas
50	chr7:96646400-96646600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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