Variant report

Variant	rs6976653
Chromosome Location	chr7:138544500-138544501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138542570..138544795-chr7:138547269..138548947,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10229557	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10954632	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10954633	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1993068	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6467814	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7779986	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][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	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
5	esv1800954	chr7:138541488-138557718	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 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	chr7:138517400-138554200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:138518200-138565800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:138518400-138545400	Weak transcription	Right Ventricle	heart
5	chr7:138519000-138548800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:138519400-138544600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:138520800-138552400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:138521000-138571000	Weak transcription	Brain Anterior Caudate	brain
9	chr7:138523400-138548800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
11	chr7:138527000-138549000	Weak transcription	NH-A	brain
12	chr7:138527200-138545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:138529000-138549000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:138529400-138545400	Weak transcription	Lung	lung
15	chr7:138530800-138566000	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:138531200-138545600	Weak transcription	Fetal Intestine Large	intestine
17	chr7:138532200-138557400	Weak transcription	Small Intestine	intestine
18	chr7:138533600-138549000	Weak transcription	A549	lung
19	chr7:138533600-138549000	Weak transcription	Osteobl	bone
20	chr7:138533600-138553600	Weak transcription	Stomach Mucosa	stomach
21	chr7:138533800-138545400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:138533800-138549200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
24	chr7:138534800-138545400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:138535200-138552000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:138536800-138565200	Weak transcription	Fetal Kidney	kidney
27	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
28	chr7:138537600-138545400	Weak transcription	Ovary	ovary
29	chr7:138539200-138557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:138539200-138570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:138540000-138545800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:138540200-138556600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:138540400-138552000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:138541000-138546800	Strong transcription	Fetal Muscle Leg	muscle
35	chr7:138541200-138546400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:138541200-138546400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:138541200-138546800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:138541400-138545800	Strong transcription	Fetal Lung	lung
39	chr7:138541400-138546400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:138541400-138554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:138541800-138546000	Weak transcription	Esophagus	oesophagus
42	chr7:138542000-138544800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:138542200-138546200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:138542400-138545000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:138542600-138568400	Weak transcription	HepG2	liver
46	chr7:138542800-138544800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr7:138542800-138545400	Weak transcription	Gastric	stomach
48	chr7:138542800-138548800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:138543000-138545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:138543000-138545600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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