Variant report

Variant	rs17730300
Chromosome Location	chr7:127426396-127426397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127425728..127430973-chr7:127434300..127441103,9	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17675599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34836950	1.00[AMR][1000 genomes]
rs3757792	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
2	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
3	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:127401000-127427000	Weak transcription	HepG2	liver
5	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
6	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
9	chr7:127407400-127447600	Weak transcription	Dnd41	blood
10	chr7:127407600-127428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:127408400-127426400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:127409400-127430200	Weak transcription	Liver	Liver
13	chr7:127410200-127432800	Weak transcription	Psoas Muscle	Psoas
14	chr7:127411400-127437200	Weak transcription	Left Ventricle	heart
15	chr7:127414600-127427200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:127418000-127427400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:127419800-127435200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:127422400-127432400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:127422400-127445400	Weak transcription	Aorta	Aorta
20	chr7:127422800-127427800	Weak transcription	Brain Angular Gyrus	brain
21	chr7:127422800-127432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:127423000-127427200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:127423000-127427200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:127423000-127427200	Weak transcription	Adipose Nuclei	Adipose
25	chr7:127423000-127427600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:127423000-127427600	Weak transcription	A549	lung
27	chr7:127423000-127429600	Weak transcription	Pancreas	Pancrea
28	chr7:127423000-127432200	Weak transcription	Lung	lung
29	chr7:127423000-127437200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:127423000-127437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:127423000-127437800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:127423000-127437800	Weak transcription	Fetal Lung	lung
33	chr7:127423000-127449200	Weak transcription	Small Intestine	intestine
34	chr7:127423200-127427400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:127423200-127427600	Weak transcription	Brain Anterior Caudate	brain
36	chr7:127423200-127429600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:127423200-127432600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:127423200-127437400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:127423200-127440000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:127423200-127447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:127423400-127427200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:127423400-127427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:127423400-127427600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:127423400-127430000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:127423400-127430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:127423400-127430200	Weak transcription	NHEK	skin
47	chr7:127423400-127432400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:127423400-127432600	Weak transcription	Brain Substantia Nigra	brain
49	chr7:127423400-127433400	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:127423400-127449000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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