Variant report

Variant	rs58602292
Chromosome Location	chr7:16825892-16825893
allele	A/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	GATA3	chr7:16825415-16826196	MCF-7	breast:	n/a	chr7:16826105-16826115
2	GATA3	chr7:16825867-16826178	T-47D	breast:	n/a	chr7:16826105-16826115

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16792019..16795957-chr7:16825471..16827431,5	MCF-7	breast:
2	chr7:16825159..16826158-chr7:16919904..16920435,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267906	TF binding region
ENSG00000106537	Chromatin interaction

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

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

rs_ID	r²[population]
rs15504	0.91[EUR][1000 genomes]
rs28626646	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7785009	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7809828	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][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	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16795000-16828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:16805000-16832400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:16811400-16833600	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:16814000-16834600	Weak transcription	Fetal Brain Male	brain
5	chr7:16814200-16826400	Weak transcription	Right Ventricle	heart
6	chr7:16814400-16843800	Weak transcription	Small Intestine	intestine
7	chr7:16815000-16838000	Weak transcription	K562	blood
8	chr7:16816800-16835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:16818600-16829000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:16819000-16830600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:16819800-16838000	Weak transcription	Placenta	Placenta
12	chr7:16820000-16827600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr7:16820200-16835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:16820800-16827400	Strong transcription	Primary B cells from cord blood	blood
15	chr7:16822600-16829600	Weak transcription	NH-A	brain
16	chr7:16823400-16826800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:16823400-16830000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:16823600-16829400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:16823600-16835400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:16823600-16843600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:16823800-16826800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:16825000-16826000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:16825000-16826000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:16825200-16828800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:16825400-16828600	Enhancers	Fetal Intestine Large	intestine
26	chr7:16825600-16826400	Enhancers	A549	lung
27	chr7:16825600-16828000	Enhancers	Fetal Intestine Small	intestine
28	chr7:16825800-16826600	Weak transcription	Stomach Mucosa	stomach
29	chr7:16825800-16829400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:16825800-16830600	Weak transcription	HSMMtube	muscle
31	chr7:16825800-16831800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:16825800-16832400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:16825800-16833600	Weak transcription	Gastric	stomach
34	chr7:16825800-16834400	Weak transcription	Fetal Brain Female	brain
35	chr7:16825800-16834600	Weak transcription	Fetal Stomach	stomach
36	chr7:16825800-16836600	Weak transcription	Left Ventricle	heart

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