Variant report

Variant	rs147190947
Chromosome Location	chr7:66223380-66223381
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66222166..66224180-chr7:66308292..66309931,2	K562	blood:
2	chr7:66220562..66222668-chr7:66223187..66225396,2	K562	blood:

Variant related genes	Relation type
ENSG00000230583	Chromatin interaction
ENSG00000154710	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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 target site	116 gene(s)	inside rSNPs	diseases
3	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv981512	chr7:66223352-66249901	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66206800-66223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:66206800-66232600	Weak transcription	Primary T cells from cord blood	blood
3	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
4	chr7:66207000-66227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:66207000-66227400	Weak transcription	Fetal Stomach	stomach
6	chr7:66207000-66230600	Weak transcription	Fetal Intestine Large	intestine
7	chr7:66207000-66230600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:66207000-66234000	Weak transcription	Fetal Thymus	thymus
9	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:66207200-66223400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:66207600-66223400	Weak transcription	K562	blood
14	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:66207800-66225800	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:66208000-66230600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:66208000-66232400	Weak transcription	Thymus	Thymus
18	chr7:66208000-66236800	Weak transcription	Dnd41	blood
19	chr7:66208000-66238000	Weak transcription	A549	lung
20	chr7:66208000-66238600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:66208000-66238600	Weak transcription	Brain Germinal Matrix	brain
22	chr7:66208000-66240800	Weak transcription	HSMMtube	muscle
23	chr7:66208000-66241800	Weak transcription	Hela-S3	cervix
24	chr7:66209400-66239000	Weak transcription	HMEC	breast
25	chr7:66211000-66223400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:66211000-66228600	Weak transcription	Fetal Lung	lung
27	chr7:66212000-66236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:66213200-66234400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:66213400-66230600	Weak transcription	NH-A	brain
30	chr7:66214000-66223400	Weak transcription	Small Intestine	intestine
31	chr7:66214200-66224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:66214200-66224000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:66214200-66225800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:66214200-66234200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:66214400-66223400	Weak transcription	HSMM	muscle
36	chr7:66214400-66225000	Weak transcription	Ovary	ovary
37	chr7:66214400-66229600	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:66214400-66234200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:66214400-66236600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:66214400-66239400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr7:66214600-66223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:66214600-66223800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:66214600-66224000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:66214600-66231000	Weak transcription	Left Ventricle	heart
45	chr7:66214600-66234000	Weak transcription	NHLF	lung
46	chr7:66214600-66234200	Weak transcription	Gastric	stomach
47	chr7:66215000-66230600	Weak transcription	Fetal Intestine Small	intestine
48	chr7:66215600-66234200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:66215800-66234200	Weak transcription	NHEK	skin
50	chr7:66216600-66223400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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