Variant report

Variant	rs4996149
Chromosome Location	chr7:66375019-66375020
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66373897..66375697-chr7:66375853..66378832,2	MCF-7	breast:
2	chr7:66365153..66367463-chr7:66373065..66375553,2	MCF-7	breast:
3	chr7:66308900..66311373-chr7:66373403..66375872,2	K562	blood:
4	chr7:66374934..66377494-chr7:66383366..66386390,3	K562	blood:

Variant related genes	Relation type
ENSG00000230583	Chromatin interaction
ENSG00000106609	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2016325	0.90[ASN][1000 genomes]
rs3778917	0.92[ASN][1000 genomes]
rs4273746	0.83[ASN][1000 genomes]
rs4718421	0.85[ASN][1000 genomes]
rs6971897	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4996149	RP4-756H11.3	cis	lung	GTEx
rs4996149	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs4996149	RP4-756H11.3	cis	Thyroid	GTEx
rs4996149	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs4996149	RP4-756H11.3	cis	Artery Tibial	GTEx
rs4996149	RP4-756H11.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66311000-66385200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:66311200-66385200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:66331800-66378400	Weak transcription	A549	lung
4	chr7:66350600-66385200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:66353200-66379600	Weak transcription	GM12878-XiMat	blood
6	chr7:66355600-66375400	Weak transcription	Fetal Brain Male	brain
7	chr7:66364000-66375600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:66364400-66385400	Weak transcription	HSMMtube	muscle
9	chr7:66364800-66378400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:66364800-66385000	Weak transcription	Brain Anterior Caudate	brain
11	chr7:66366400-66385600	Weak transcription	Brain Substantia Nigra	brain
12	chr7:66366800-66375800	Weak transcription	HepG2	liver
13	chr7:66366800-66378800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:66367600-66375600	Weak transcription	Lung	lung
15	chr7:66368000-66385400	Weak transcription	Adipose Nuclei	Adipose
16	chr7:66369000-66385400	Weak transcription	Thymus	Thymus
17	chr7:66369000-66385600	Weak transcription	Ovary	ovary
18	chr7:66369400-66378800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:66370000-66385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:66370200-66385400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:66370600-66378800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:66370800-66385000	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:66371000-66378200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:66371000-66385200	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:66371200-66382000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:66371200-66385400	Weak transcription	Fetal Intestine Small	intestine
27	chr7:66371200-66385600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:66371800-66376800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:66371800-66382400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:66371800-66385400	Weak transcription	Fetal Stomach	stomach
31	chr7:66373000-66382600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:66373400-66375600	Weak transcription	Liver	Liver
33	chr7:66375000-66378600	Weak transcription	K562	blood

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