Variant report

Variant	rs73299630
Chromosome Location	chr7:16801868-16801869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16796604..16799522-chr7:16799940..16802682,3	MCF-7	breast:
2	chr7:16794917..16796909-chr7:16801074..16804000,3	K562	blood:
3	chr7:16783316..16786231-chr7:16801577..16804005,2	K562	blood:
4	chr7:16800951..16805401-chr7:16805504..16810552,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28582757	0.85[AMR][1000 genomes]
rs60235307	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6461274	0.85[AMR][1000 genomes]
rs73299640	0.85[AMR][1000 genomes]
rs73299645	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299648	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7780556	1.00[AMR][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16795000-16804200	Weak transcription	HUVEC	blood vessel
2	chr7:16795000-16806000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:16795000-16810200	Weak transcription	HMEC	breast
4	chr7:16795000-16810400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:16795000-16828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:16795200-16810000	Weak transcription	NHEK	skin
7	chr7:16795200-16810600	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:16795400-16813000	Weak transcription	Right Ventricle	heart
9	chr7:16796200-16804600	Weak transcription	Pancreas	Pancrea
10	chr7:16796200-16806400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:16796400-16810200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:16796600-16803600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:16796600-16804400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:16796600-16810400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:16796600-16816200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:16799000-16803200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:16799000-16807800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:16799000-16810400	Weak transcription	K562	blood
19	chr7:16799600-16802600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:16799600-16810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:16799600-16813000	Weak transcription	Stomach Mucosa	stomach
22	chr7:16799800-16803000	Weak transcription	Gastric	stomach
23	chr7:16799800-16804600	Weak transcription	Left Ventricle	heart
24	chr7:16800200-16802800	Genic enhancers	Primary B cells from cord blood	blood
25	chr7:16800200-16803200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr7:16800400-16802800	Enhancers	Fetal Intestine Large	intestine
27	chr7:16800600-16825600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:16800800-16803000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:16801000-16802000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:16801400-16802600	Weak transcription	Fetal Intestine Small	intestine
31	chr7:16801400-16810600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:16801600-16811200	Weak transcription	Spleen	Spleen
33	chr7:16801800-16802000	Enhancers	Duodenum Mucosa	Duodenum
34	chr7:16801800-16802200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:16801800-16802200	Enhancers	Fetal Heart	heart
36	chr7:16801800-16802200	Enhancers	A549	lung
37	chr7:16801800-16802400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr7:16801800-16802800	Genic enhancers	Primary B cells from peripheral blood	blood

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