Variant report

Variant	rs193192654
Chromosome Location	chr7:138547666-138547667
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138525822..138528348-chr7:138545426..138548328,2	K562	blood:
2	chr7:138546026..138547910-chr7:138550834..138552380,2	MCF-7	breast:
3	chr7:138542570..138544795-chr7:138547269..138548947,2	K562	blood:
4	chr7:138531188..138532844-chr7:138546635..138548552,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3431487	chr7:138547213-138547739	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:89 , 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	chr7:138519000-138548800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:138520800-138552400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:138521000-138571000	Weak transcription	Brain Anterior Caudate	brain
7	chr7:138523400-138548800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
9	chr7:138527000-138549000	Weak transcription	NH-A	brain
10	chr7:138529000-138549000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:138530800-138566000	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:138532200-138557400	Weak transcription	Small Intestine	intestine
13	chr7:138533600-138549000	Weak transcription	A549	lung
14	chr7:138533600-138549000	Weak transcription	Osteobl	bone
15	chr7:138533600-138553600	Weak transcription	Stomach Mucosa	stomach
16	chr7:138533800-138549200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
18	chr7:138535200-138552000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:138536800-138565200	Weak transcription	Fetal Kidney	kidney
20	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
21	chr7:138539200-138557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:138539200-138570400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:138540200-138556600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:138540400-138552000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:138541400-138554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:138542600-138568400	Weak transcription	HepG2	liver
27	chr7:138542800-138548800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:138543000-138549200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:138543000-138549400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:138543000-138558600	Strong transcription	Fetal Stomach	stomach
31	chr7:138543000-138569000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:138543400-138555400	Weak transcription	Fetal Brain Male	brain
33	chr7:138543400-138560000	Weak transcription	Dnd41	blood
34	chr7:138543400-138561200	Weak transcription	HSMM	muscle
35	chr7:138543400-138565800	Weak transcription	Adipose Nuclei	Adipose
36	chr7:138543600-138548200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:138543600-138548400	Weak transcription	Fetal Intestine Small	intestine
38	chr7:138543600-138556600	Strong transcription	Brain Germinal Matrix	brain
39	chr7:138543600-138556600	Strong transcription	Fetal Brain Female	brain
40	chr7:138543800-138561000	Weak transcription	NHDF-Ad	bronchial
41	chr7:138544400-138549600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:138544400-138565800	Weak transcription	Brain Substantia Nigra	brain
43	chr7:138544600-138552200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:138544600-138574800	Weak transcription	Spleen	Spleen
45	chr7:138544800-138551200	Weak transcription	Placenta	Placenta
46	chr7:138544800-138552400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:138544800-138557800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:138545400-138597200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:138545600-138554800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:138545800-138547800	Weak transcription	Fetal Lung	lung

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