Variant report

Variant	rs6969949
Chromosome Location	chr7:27931656-27931657
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27928475..27932092-chr7:27934786..27940167,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10249314	0.85[CEU][hapmap]
rs11763181	0.85[CEU][hapmap]
rs12538288	0.85[CEU][hapmap]
rs1859109	1.00[CEU][hapmap]
rs197	1.00[CEU][hapmap]
rs200	1.00[CEU][hapmap]
rs201	1.00[CEU][hapmap]
rs205	1.00[CEU][hapmap]
rs207	1.00[CEU][hapmap]
rs208	1.00[CEU][hapmap]
rs211	1.00[CEU][hapmap]
rs213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214	0.89[EUR][1000 genomes]
rs215	1.00[CEU][hapmap]
rs2158892	0.87[CEU][hapmap]
rs218	1.00[CEU][hapmap]
rs4722746	0.85[CEU][hapmap]
rs6462060	0.85[CEU][hapmap]
rs6951040	1.00[CEU][hapmap]
rs6958293	0.82[CEU][hapmap]
rs6968362	0.85[CEU][hapmap]
rs6968677	0.85[CEU][hapmap]
rs6970113	0.85[CEU][hapmap]
rs6970160	0.85[CEU][hapmap]
rs6972944	0.85[CEU][hapmap]
rs720659	0.85[CHB][hapmap]
rs73083396	0.89[EUR][1000 genomes]
rs7778340	0.85[CEU][hapmap]
rs7780688	1.00[ASN][1000 genomes]
rs7783410	0.85[CEU][hapmap]
rs7787507	0.85[CEU][hapmap]
rs7798817	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs916854	1.00[CEU][hapmap]

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	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
5	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6969949	NPY	cis	cerebellum	SCAN
rs6969949	HIBADH	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27906200-27933000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:27908000-27935000	Weak transcription	Primary T cells from cord blood	blood
3	chr7:27908200-27932600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:27909400-27937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:27914000-27933000	Weak transcription	Aorta	Aorta
6	chr7:27914400-27937200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:27914600-27933000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:27915400-27939400	Weak transcription	NHDF-Ad	bronchial
9	chr7:27915800-27937200	Weak transcription	Gastric	stomach
10	chr7:27915800-27937200	Weak transcription	Right Ventricle	heart
11	chr7:27916600-27933400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:27922200-27933200	Weak transcription	Left Ventricle	heart
13	chr7:27922800-27937000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:27923400-27933200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:27923800-27932400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:27923800-27932800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:27923800-27936800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:27923800-27941000	Weak transcription	Fetal Brain Female	brain
19	chr7:27924000-27933000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:27924000-27933000	Weak transcription	Fetal Stomach	stomach
21	chr7:27924000-27937200	Weak transcription	Lung	lung
22	chr7:27924000-27938800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:27924000-27938800	Weak transcription	Spleen	Spleen
24	chr7:27924200-27932400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:27924200-27932600	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:27924200-27932800	Weak transcription	Adipose Nuclei	Adipose
27	chr7:27924200-27933000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:27924200-27933600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:27924200-27936400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:27924200-27936600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:27925400-27932800	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:27925600-27933200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:27925800-27933400	Weak transcription	Liver	Liver
34	chr7:27925800-27935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:27925800-27937000	Weak transcription	Fetal Heart	heart
36	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:27927000-27931800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr7:27927800-27936400	Weak transcription	HSMMtube	muscle
39	chr7:27928000-27939800	Weak transcription	Osteobl	bone
40	chr7:27928400-27940600	Weak transcription	NHLF	lung
41	chr7:27928400-27940800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:27928800-27937400	Weak transcription	Psoas Muscle	Psoas
43	chr7:27930000-27938400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:27930000-27939600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:27930000-27949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:27930200-27936400	Weak transcription	Fetal Intestine Small	intestine
47	chr7:27930800-27934000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:27930800-27934200	Strong transcription	Primary B cells from cord blood	blood
49	chr7:27930800-27939600	Weak transcription	GM12878-XiMat	blood
50	chr7:27931200-27933000	Weak transcription	Ovary	ovary

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