Variant report

Variant	rs58633452
Chromosome Location	chr7:69065414-69065415
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	YY1	chr7:69065128-69065487	SK-N-SH_RA	brain:	n/a	chr7:69065294-69065316
2	POLR2A	chr7:69064122-69065641	H1-neurons	neurons:	n/a	n/a
3	ZNF143	chr7:69065258-69065471	GM12878	blood:	n/a	n/a
4	YY1	chr7:69065181-69065450	GM12892	blood:	n/a	chr7:69065294-69065316
5	MXI1	chr7:69065335-69065446	GM12878	blood:	n/a	n/a
6	RAD21	chr7:69064178-69065625	SK-N-SH_RA	brain:	n/a	n/a
7	ZNF263	chr7:69064258-69065804	HEK293-T-REx	kidney:	n/a	chr7:69065589-69065598 chr7:69064431-69064452
8	ZNF143	chr7:69064261-69065491	H1-hESC	embryonic stem cell:	n/a	chr7:69064623-69064633 chr7:69065180-69065190 chr7:69065000-69065010
9	CTBP2	chr7:69064293-69065439	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr7:69060600-69067258	SK-N-SH	brain:	n/a	n/a
11	YY1	chr7:69065146-69065482	GM12878	blood:	n/a	chr7:69065294-69065316
12	RAD21	chr7:69065185-69065600	SK-N-SH_RA	brain:	n/a	n/a
13	YY1	chr7:69065126-69065489	SK-N-SH_RA	brain:	n/a	chr7:69065294-69065316
14	ZNF384	chr7:69065336-69065684	GM12878	blood:	n/a	n/a
15	YY1	chr7:69065127-69065468	GM12878	blood:	n/a	chr7:69065294-69065316
16	REST	chr7:69062980-69066006	H1-neurons	neurons:	n/a	chr7:69065023-69065036 chr7:69063407-69063420 chr7:69063422-69063435 chr7:69065010-69065023 chr7:69065096-69065106 chr7:69064001-69064014
17	MTA3	chr7:69064810-69065502	GM12878	blood:	n/a	n/a
18	SIN3A	chr7:69063635-69065467	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr7:69065217-69065436	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:69065211-69065483	GM12878	blood:	n/a	n/a
21	MAZ	chr7:69065057-69065477	GM12878	blood:	n/a	chr7:69065186-69065196
22	POLR2A	chr7:69064406-69065620	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69064794..69066719-chr7:69068260..69070601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234215	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10236103	0.81[AFR][1000 genomes]
rs56800568	0.83[AFR][1000 genomes]
rs7810982	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5783	chr7:69048608-69066760	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3340834	chr7:69061816-69066664	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69061600-69065800	Active TSS	Brain Angular Gyrus	brain
2	chr7:69061800-69065600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:69061800-69065600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr7:69061800-69065800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:69061800-69066000	Active TSS	Fetal Kidney	kidney
6	chr7:69061800-69066000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:69062000-69065600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:69062000-69065600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:69062000-69065600	Active TSS	Brain Substantia Nigra	brain
10	chr7:69062000-69065600	Active TSS	Fetal Intestine Small	intestine
11	chr7:69062000-69066000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:69062000-69066000	Active TSS	Ovary	ovary
13	chr7:69062000-69066200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:69062000-69066200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:69062000-69066400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:69062000-69066400	Active TSS	Rectal Smooth Muscle	rectum
17	chr7:69062000-69066400	Active TSS	NHDF-Ad	bronchial
18	chr7:69062200-69065600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:69062200-69065600	Active TSS	Psoas Muscle	Psoas
20	chr7:69062200-69065800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:69062200-69065800	Active TSS	Colon Smooth Muscle	Colon
22	chr7:69062200-69065800	Active TSS	Right Atrium	heart
23	chr7:69062200-69066800	Active TSS	Brain Anterior Caudate	brain
24	chr7:69062400-69065600	Active TSS	HSMM	muscle
25	chr7:69062400-69066000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:69062600-69065600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr7:69062800-69065600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:69062800-69065800	Active TSS	Brain Cingulate Gyrus	brain
29	chr7:69062800-69065800	Active TSS	Stomach Smooth Muscle	stomach
30	chr7:69062800-69066000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:69063200-69065600	Active TSS	Fetal Stomach	stomach
32	chr7:69063600-69065600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr7:69063800-69065600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr7:69063800-69065600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr7:69064000-69065600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr7:69064000-69065800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
37	chr7:69064400-69065800	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr7:69064800-69065600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr7:69064800-69065600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:69064800-69065600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:69064800-69065600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
42	chr7:69064800-69065600	Bivalent/Poised TSS	Osteobl	bone
43	chr7:69064800-69065800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr7:69064800-69065800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:69064800-69066200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr7:69064800-69066600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr7:69064800-69066600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr7:69064800-69067000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:69065000-69065600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
50	chr7:69065000-69065600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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