Variant report

Variant	rs2693735
Chromosome Location	chr7:129425256-129425257
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	SUZ12	chr7:129424145-129426274	NT2-D1	testis:	n/a	n/a
2	CTBP2	chr7:129424464-129426099	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:129424840-129425982	H1-neurons	neurons:	n/a	n/a
4	PML	chr7:129424902-129425267	K562	blood:	n/a	n/a
5	POLR2A	chr7:129424870-129425381	K562	blood:	n/a	n/a
6	SPI1	chr7:129424903-129425478	GM12878	blood:	n/a	chr7:129425109-129425118
7	POLR2A	chr7:129424859-129425256	K562	blood:	n/a	n/a
8	CBX3	chr7:129424885-129425427	K562	blood:	n/a	n/a
9	ELF1	chr7:129424893-129425466	K562	blood:	n/a	n/a
10	ZBTB7A	chr7:129424752-129425260	K562	blood:	n/a	n/a
11	TEAD4	chr7:129424822-129425359	K562	blood:	n/a	n/a
12	CBX3	chr7:129424642-129425527	K562	blood:	n/a	n/a
13	POLR2A	chr7:129424925-129426051	H1-neurons	neurons:	n/a	n/a
14	TEAD4	chr7:129424776-129425527	K562	blood:	n/a	n/a
15	CEBPD	chr7:129424872-129425329	K562	blood:	n/a	n/a
16	NR2F2	chr7:129424615-129425549	K562	blood:	n/a	n/a
17	EP300	chr7:129424914-129425279	K562	blood:	n/a	n/a
18	SPI1	chr7:129424866-129425456	GM12891	blood:	n/a	chr7:129425109-129425118
19	STAT5A	chr7:129424867-129425312	GM12878	blood:	n/a	chr7:129425107-129425118
20	CUX1	chr7:129425244-129425414	GM12878	blood:	n/a	n/a
21	ZNF143	chr7:129425100-129425390	K562	blood:	n/a	n/a
22	RUNX3	chr7:129424816-129425379	GM12878	blood:	n/a	n/a
23	SPI1	chr7:129424841-129425543	GM12878	blood:	n/a	chr7:129425109-129425118
24	RCOR1	chr7:129424848-129425406	K562	blood:	n/a	n/a
25	RCOR1	chr7:129424846-129425474	K562	blood:	n/a	n/a
26	RUNX3	chr7:129424816-129425295	GM12878	blood:	n/a	n/a
27	ZNF143	chr7:129424914-129425294	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr7:129424858-129425279	K562	blood:	n/a	n/a
29	TRIM28	chr7:129424784-129425284	K562	blood:	n/a	n/a
30	SPI1	chr7:129425157-129425627	HL-60	blood:	n/a	n/a
31	NR2F2	chr7:129424819-129425394	K562	blood:	n/a	n/a
32	IRF1	chr7:129424999-129425304	K562	blood:	n/a	chr7:129425104-129425118 chr7:129425108-129425118 chr7:129425110-129425119

Variant related genes	Relation type
ENSG00000242078	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2693731	1.00[AMR][1000 genomes]
rs2693736	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693737	0.88[AFR][1000 genomes]
rs2727473	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
2	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv464721	chr7:129397644-129444951	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
4	nsv608420	chr7:129397644-129444951	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
5	esv1828133	chr7:129403541-129437113	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
6	esv1843969	chr7:129403541-129446598	Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
7	esv1802311	chr7:129406936-129442389	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129420800-129426200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr7:129421000-129425600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
3	chr7:129421200-129427400	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr7:129421600-129425400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:129422200-129425400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr7:129422200-129425400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr7:129423800-129426200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:129424000-129426200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:129424200-129425400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:129424200-129425600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:129424200-129425600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
12	chr7:129424200-129425600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:129424200-129425600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
14	chr7:129424200-129425800	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr7:129424200-129426000	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr7:129424200-129426200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr7:129424200-129427400	Bivalent Enhancer	Fetal Thymus	thymus
18	chr7:129424400-129425400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:129424400-129425400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:129424400-129425600	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr7:129424400-129425600	Active TSS	Right Atrium	heart
22	chr7:129424400-129425800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:129424400-129425800	Bivalent Enhancer	Left Ventricle	heart
24	chr7:129424400-129425800	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr7:129424400-129426000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:129424400-129426000	Bivalent Enhancer	Liver	Liver
27	chr7:129424400-129426000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
28	chr7:129424400-129426200	Bivalent Enhancer	Placenta	Placenta
29	chr7:129424400-129426400	Bivalent Enhancer	Fetal Stomach	stomach
30	chr7:129424600-129425400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr7:129424600-129425400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr7:129424600-129425400	Bivalent Enhancer	Brain Substantia Nigra	brain
33	chr7:129424600-129425400	Enhancers	K562	blood
34	chr7:129424600-129425600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr7:129424600-129425600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:129424600-129425800	Enhancers	Pancreas	Pancrea
37	chr7:129424600-129425800	Enhancers	Spleen	Spleen
38	chr7:129424600-129425800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
39	chr7:129424600-129426000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chr7:129424600-129426200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:129424800-129425400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:129424800-129425400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
43	chr7:129424800-129425400	Bivalent Enhancer	Rectal Smooth Muscle	rectum
44	chr7:129424800-129425600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:129424800-129425600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
46	chr7:129424800-129425600	Bivalent Enhancer	Thymus	Thymus
47	chr7:129424800-129425600	Bivalent Enhancer	HMEC	breast
48	chr7:129424800-129425800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
49	chr7:129424800-129425800	Enhancers	Gastric	stomach
50	chr7:129424800-129425800	Bivalent Enhancer	Psoas Muscle	Psoas

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