Variant report

Variant	rs12113193
Chromosome Location	chr7:97485402-97485403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:97480607-97497455	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97481488..97486650-chr7:97486817..97491260,8	K562	blood:

Variant related genes	Relation type
ASNS	TF binding region
ENSG00000070669	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11771955	0.93[EUR][1000 genomes]
rs12667967	0.86[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97475000-97492800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:97477600-97500600	Weak transcription	Thymus	Thymus
3	chr7:97479000-97501000	Weak transcription	Fetal Intestine Large	intestine
4	chr7:97479200-97486200	Weak transcription	Small Intestine	intestine
5	chr7:97479200-97500800	Weak transcription	Right Ventricle	heart
6	chr7:97479400-97487200	Weak transcription	Left Ventricle	heart
7	chr7:97479400-97501000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:97479400-97501000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:97479600-97486800	Weak transcription	NH-A	brain
10	chr7:97479600-97487000	Weak transcription	Fetal Stomach	stomach
11	chr7:97479600-97501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:97479800-97500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:97480000-97491800	Weak transcription	Stomach Mucosa	stomach
14	chr7:97480200-97500600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:97480600-97488600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:97480600-97488800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:97480600-97489600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:97480600-97498200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:97480600-97498200	Strong transcription	K562	blood
20	chr7:97480600-97498600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:97480800-97487600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:97480800-97487800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:97480800-97487800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:97480800-97488000	Strong transcription	Primary B cells from cord blood	blood
25	chr7:97480800-97488400	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr7:97480800-97488400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr7:97480800-97488600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr7:97480800-97488800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:97480800-97488800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:97480800-97488800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:97480800-97490000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:97480800-97490600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:97480800-97491000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:97480800-97491000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:97480800-97491600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:97480800-97498400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:97481000-97485800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:97481000-97488000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr7:97481000-97488600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:97481000-97488800	Strong transcription	Primary T cells from cord blood	blood
41	chr7:97481000-97500600	Weak transcription	NHDF-Ad	bronchial
42	chr7:97481200-97485800	Strong transcription	Adipose Nuclei	Adipose
43	chr7:97481200-97486000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:97481200-97486200	Strong transcription	Fetal Brain Female	brain
45	chr7:97481200-97487600	Strong transcription	Brain Anterior Caudate	brain
46	chr7:97481200-97487800	Strong transcription	HSMM	muscle
47	chr7:97481200-97488000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr7:97481200-97488000	Strong transcription	HepG2	liver
49	chr7:97481200-97488600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:97481200-97488800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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