Variant report

Variant	rs7803019
Chromosome Location	chr7:27835015-27835016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27824247..27826333-chr7:27833436..27835500,2	K562	blood:
2	chr7:27822809..27825747-chr7:27834000..27835827,2	K562	blood:
3	chr7:27716638..27718426-chr7:27834376..27836195,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10155851	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10225487	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10267854	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10277437	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10486559	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10951184	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12666082	0.81[EUR][1000 genomes]
rs16874364	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17150563	0.82[EUR][1000 genomes]
rs17155702	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17155943	0.84[EUR][1000 genomes]
rs2051830	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2074579	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074769	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2107413	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2108309	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2158388	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237339	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237340	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237341	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285931	0.87[EUR][1000 genomes]
rs2299106	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2391488	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3779473	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4719907	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4719908	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4722741	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57932688	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58314651	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62449629	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62449639	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62449640	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62451077	0.84[EUR][1000 genomes]
rs62451079	0.84[EUR][1000 genomes]
rs62454806	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62454945	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6462048	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6462049	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6462052	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6462053	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6944251	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6944913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6971813	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6972821	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72598505	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7784038	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7801301	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7803227	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7809735	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
2	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
4	chr7:27798600-27847800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
6	chr7:27801200-27851800	Weak transcription	Fetal Brain Male	brain
7	chr7:27801400-27838400	Weak transcription	Fetal Brain Female	brain
8	chr7:27801600-27852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
10	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
12	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
13	chr7:27817400-27836200	Weak transcription	Psoas Muscle	Psoas
14	chr7:27820400-27847400	Weak transcription	Fetal Heart	heart
15	chr7:27820800-27836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
17	chr7:27824200-27843000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:27824600-27836600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:27824600-27837000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:27824600-27839000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:27824600-27840000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:27824600-27842800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:27824600-27843200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr7:27824800-27842800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr7:27825000-27842600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:27825600-27848000	Weak transcription	NHLF	lung
28	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:27826000-27838400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:27826600-27852800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:27826800-27837400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
34	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
35	chr7:27831200-27836000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:27831200-27836200	Strong transcription	Primary B cells from cord blood	blood
37	chr7:27831200-27836200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:27831200-27836400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:27831200-27837000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:27831200-27837000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:27831200-27837600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr7:27831200-27837800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:27831200-27837800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr7:27831200-27838800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:27831200-27839000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:27831200-27842400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:27831200-27843400	Strong transcription	Placenta	Placenta
48	chr7:27831200-27844800	Strong transcription	HSMM	muscle
49	chr7:27831400-27835800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:27831400-27836000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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