Variant report

Variant	rs1833494
Chromosome Location	chr7:138165832-138165833
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	chr7:138156609..138159156-chr7:138163880..138167258,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60555372	1.00[AMR][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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	nsv981589	chr7:138163846-138177455	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1833494	ZC3HAV1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138147200-138168400	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:138147200-138183800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:138147200-138189000	Weak transcription	Thymus	Thymus
4	chr7:138149800-138188600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:138153800-138166200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:138153800-138184200	Weak transcription	Fetal Stomach	stomach
7	chr7:138154800-138167200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:138155200-138184200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:138157600-138191400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:138157800-138166800	Weak transcription	Right Atrium	heart
11	chr7:138160200-138175000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:138160600-138168400	Weak transcription	Gastric	stomach
13	chr7:138160600-138182200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:138161800-138195800	Weak transcription	Fetal Brain Female	brain
15	chr7:138162000-138175200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:138163600-138166200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:138163600-138168200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:138163600-138168600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:138163600-138183400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:138163600-138184000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:138163600-138184200	Weak transcription	Aorta	Aorta
22	chr7:138163600-138184200	Weak transcription	Fetal Thymus	thymus
23	chr7:138163800-138166200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:138163800-138166200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:138163800-138168200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:138163800-138175400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:138164000-138166400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:138164000-138166800	Weak transcription	Fetal Heart	heart
29	chr7:138164000-138191400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:138164000-138199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:138164200-138166200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:138164200-138166200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:138164200-138167600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:138164200-138167600	Weak transcription	K562	blood
35	chr7:138164200-138167800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:138164200-138170000	Weak transcription	Fetal Intestine Large	intestine
37	chr7:138164200-138173400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:138164400-138166600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:138164400-138167600	Weak transcription	Left Ventricle	heart
40	chr7:138164400-138168200	Weak transcription	GM12878-XiMat	blood
41	chr7:138164400-138175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:138164400-138175400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:138164400-138176800	Weak transcription	Pancreas	Pancrea
44	chr7:138164400-138184200	Weak transcription	Ovary	ovary
45	chr7:138164800-138168600	Weak transcription	Lung	lung
46	chr7:138165000-138166200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:138165000-138166600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:138165000-138167000	Genic enhancers	HepG2	liver
49	chr7:138165000-138168200	Weak transcription	Stomach Mucosa	stomach
50	chr7:138165000-138169000	Enhancers	Primary T helper cells fromperipheralblood	blood

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