Variant report

Variant	rs1993068
Chromosome Location	chr7:138541151-138541152
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138540192..138541943-chr7:138563866..138566000,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10229557	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10954632	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10954633	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6467814	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976653	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7779986	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[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	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription 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	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138515800-138554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:138516600-138541400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:138517400-138554200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:138518200-138565800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:138518400-138545400	Weak transcription	Right Ventricle	heart
6	chr7:138519000-138548800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:138519200-138544000	Weak transcription	Placenta	Placenta
8	chr7:138519400-138544600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:138519600-138542200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:138520800-138552400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:138521000-138571000	Weak transcription	Brain Anterior Caudate	brain
12	chr7:138523200-138541400	Weak transcription	Aorta	Aorta
13	chr7:138523200-138544200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:138523200-138544400	Weak transcription	Left Ventricle	heart
15	chr7:138523400-138543000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:138523400-138548800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
18	chr7:138524400-138542200	Weak transcription	Dnd41	blood
19	chr7:138527000-138549000	Weak transcription	NH-A	brain
20	chr7:138527200-138545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:138529000-138549000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:138529400-138541200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:138529400-138545400	Weak transcription	Lung	lung
24	chr7:138529600-138541400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:138530600-138541200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:138530800-138566000	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:138531200-138545600	Weak transcription	Fetal Intestine Large	intestine
28	chr7:138532200-138557400	Weak transcription	Small Intestine	intestine
29	chr7:138533600-138549000	Weak transcription	A549	lung
30	chr7:138533600-138549000	Weak transcription	Osteobl	bone
31	chr7:138533600-138553600	Weak transcription	Stomach Mucosa	stomach
32	chr7:138533800-138542000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:138533800-138545400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:138533800-138549200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
36	chr7:138534800-138545400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:138535200-138552000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:138535400-138542000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:138535400-138544400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:138535600-138541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:138535600-138541200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:138535600-138541400	Weak transcription	Fetal Lung	lung
43	chr7:138535600-138541600	Weak transcription	HSMM	muscle
44	chr7:138535600-138542000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:138536000-138544400	Weak transcription	Hela-S3	cervix
46	chr7:138536400-138542200	Weak transcription	Fetal Brain Male	brain
47	chr7:138536600-138541600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:138536800-138541200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:138536800-138541600	Weak transcription	Fetal Intestine Small	intestine
50	chr7:138536800-138541800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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