Variant report

Variant	rs138634547
Chromosome Location	chr7:111984588-111984589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111982916..111985880-chr7:111989635..111992335,2	K562	blood:
2	chr7:111979755..111984894-chr7:111986750..111988962,5	K562	blood:

Variant related genes	Relation type
ENSG00000226851	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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 target site	105 gene(s)	inside rSNPs	diseases
3	nsv1020212	chr7:111944370-112032596	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv5902	chr7:111952128-111997265	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv2762697	chr7:111983278-111988953	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111943000-111985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:111945200-111986800	Weak transcription	Hela-S3	cervix
3	chr7:111958800-111987400	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:111960800-111990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:111961000-111987000	Weak transcription	Small Intestine	intestine
6	chr7:111961800-111986000	Weak transcription	K562	blood
7	chr7:111963800-111987200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:111965800-111985400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:111965800-111986800	Weak transcription	GM12878-XiMat	blood
10	chr7:111966000-111985800	Weak transcription	Spleen	Spleen
11	chr7:111966000-111989600	Weak transcription	Gastric	stomach
12	chr7:111966400-111991400	Weak transcription	Esophagus	oesophagus
13	chr7:111966600-111984800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:111966600-111989600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:111966600-112000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:111967600-111986800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:111968400-111985200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:111969400-111985400	Strong transcription	Dnd41	blood
19	chr7:111974600-111985400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:111974800-111985000	Strong transcription	Liver	Liver
21	chr7:111977600-111991000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:111977800-111985400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:111977800-111986800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:111978200-111986000	Strong transcription	Left Ventricle	heart
25	chr7:111978400-111987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:111978400-111989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:111978400-111990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:111978400-111990400	Weak transcription	Brain Germinal Matrix	brain
29	chr7:111978600-111986600	Weak transcription	Lung	lung
30	chr7:111978600-111990400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:111979000-111984600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:111979400-111985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:111979800-111986000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:111980000-111985200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:111980000-111985400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:111980200-111984600	Strong transcription	Placenta	Placenta
37	chr7:111980200-111985800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:111980200-111986000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:111980800-111984600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:111980800-111991400	Weak transcription	NHDF-Ad	bronchial
41	chr7:111981800-111987400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:111982000-111991400	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:111982400-111989200	Weak transcription	Fetal Stomach	stomach
44	chr7:111982600-111985400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:111982600-111986800	Weak transcription	Brain Substantia Nigra	brain
46	chr7:111982600-111990800	Weak transcription	Fetal Brain Female	brain
47	chr7:111982800-111984800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:111982800-111985000	Weak transcription	HUVEC	blood vessel
49	chr7:111982800-111985200	Weak transcription	Brain Angular Gyrus	brain
50	chr7:111982800-111987200	Weak transcription	NHEK	skin

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