Variant report

Variant	rs7627056
Chromosome Location	chr3:141724328-141724329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10084673	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10935452	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11569239	0.81[EUR][1000 genomes]
rs11569243	0.81[EUR][1000 genomes]
rs13353394	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1355437	0.95[EUR][1000 genomes]
rs16852071	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6794224	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73236008	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs733996	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7643431	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9757584	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9819611	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9822044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9824764	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9855288	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9867351	0.91[AFR][1000 genomes]
rs9867745	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9870186	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9871464	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
2	chr3:141671800-141735600	Weak transcription	Aorta	Aorta
3	chr3:141677800-141739000	Weak transcription	Left Ventricle	heart
4	chr3:141678800-141745600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr3:141680000-141731200	Weak transcription	Fetal Brain Female	brain
6	chr3:141682800-141724600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr3:141682800-141739000	Weak transcription	Pancreas	Pancrea
8	chr3:141682800-141745800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:141682800-141746200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:141683800-141746600	Weak transcription	Lung	lung
11	chr3:141688800-141729000	Strong transcription	Fetal Thymus	thymus
12	chr3:141697400-141727200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:141697600-141725800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:141698600-141738800	Weak transcription	HSMM	muscle
15	chr3:141704200-141725400	Weak transcription	Spleen	Spleen
16	chr3:141706400-141746200	Weak transcription	Fetal Lung	lung
17	chr3:141707200-141734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:141708400-141731200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:141708600-141728400	Weak transcription	Liver	Liver
20	chr3:141708600-141745200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:141711800-141732400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:141713000-141724400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:141716000-141724600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:141716000-141732400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:141716000-141738600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:141716000-141745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:141719600-141724600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:141719600-141738600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:141719600-141738600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:141719600-141739000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:141719800-141728600	Strong transcription	Dnd41	blood
32	chr3:141720000-141724400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:141720200-141725800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:141720200-141738000	Weak transcription	Fetal Intestine Large	intestine
35	chr3:141720200-141746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:141720400-141732400	Weak transcription	Fetal Stomach	stomach
37	chr3:141720400-141737400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:141720400-141742600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr3:141720600-141730000	Weak transcription	Primary T cells from cord blood	blood
40	chr3:141721200-141724600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:141721200-141725400	Weak transcription	Fetal Intestine Small	intestine
42	chr3:141721400-141724400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:141721600-141724600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:141721600-141739000	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:141722400-141724400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:141722400-141724400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr3:141722400-141724600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:141722600-141735600	Weak transcription	Thymus	Thymus
49	chr3:141722600-141745400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:141722800-141724400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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